Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... |
OMIM:612567 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Recurrent respiratory infections, I... |
OMIM:300635 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Immunodeficiency 37 |
|
Colitis, Recurrent infections, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Decreased circulating complement C3... |
OMIM:614420 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Colitis |
ORPHA:88643 |
Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... |
OMIM:601859 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Inflammation of the large intestine, Mucoid diarrhea, Increased ... |
OMIM:615767 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... |
OMIM:617638 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Vomiting, Diarrhea, Enterocolitis |
OMIM:260005 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased circ... |
OMIM:619220 |
Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Anti-... |
OMIM:618534 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Recurrent sinusitis, Colitis, Achalasia, Furuncle, Decreased cir... |
OMIM:618969 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... |
OMIM:619281 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Increased circulating ferritin concentration, Recur... |
OMIM:613101 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... |
OMIM:618108 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Elevated circulating C-reactive protein concentration, Colitis, Sterile arthritis, Cys... |
OMIM:604416 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent mycobacterial inf... |
ORPHA:98813 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 53 |
|
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... |
OMIM:618394 |
C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Secretory diarrhea, Increased circulating ferritin concentration, Villous atroph... |
OMIM:616050 |
Diarrhea 6 |
|
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease |
OMIM:614616 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... |
OMIM:614878 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... |
ORPHA:436159 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antineutrophil antibody positivity, Platelet antibody positive, Reduced delayed hypersensitivity,... |
OMIM:603909 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Epidermolysis Bullosa Acquisita |
|
Abdominal pain, Inflammation of the large intestine |
ORPHA:46487 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... |
ORPHA:411593 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
Radiation Proctitis |
|
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... |
ORPHA:70475 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Anti-thyroglobulin antibody positivity, Anti-beta-2-Glycoprotein I IgG antibody positivity, Abnor... |
OMIM:618048 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Reduced isohemagglutinin level, Complete or near-complete absenc... |
OMIM:618459 |
Immunodeficiency 58 |
|
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Recurrent cutaneous abscess for... |
OMIM:618131 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... |
ORPHA:26790 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Gastroesophageal reflux, Recurrent viral infections, Increased circulating IgE... |
OMIM:620532 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent otitis media, Absent... |
OMIM:245480 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:619707 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Increased circulating IgG level |
OMIM:618982 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot... |
OMIM:616809 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Increased circulating interle... |
OMIM:301074 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... |
OMIM:614700 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Increased circulating ferritin ... |
OMIM:619802 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Sepsis, Malnutrition, Malabsorption, Villous atrophy, Abnormal smal... |
ORPHA:95427 |
Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449400 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Enterocolitis |
OMIM:620425 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:613502 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Skin rash, Ileal ulcer, Anterior uveitis |
OMIM:616744 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Autoimmunity, Autoimmune hemolytic anemia |
OMIM:618495 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Decreased circulating antibody level, Esophageal stenosis |
OMIM:615190 |
Chilblain Lupus |
|
Systemic lupus erythematosus, Increased circulating antibody level, Antinuclear antibody positivi... |
ORPHA:90280 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... |
ORPHA:37042 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Abnormality of tumor necrosis factor secretion, Increased circulating ferritin c... |
ORPHA:540 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Psoriasifo... |
OMIM:243150 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Bloody diarrhea, Skin ras... |
OMIM:617718 |
Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De... |
OMIM:615615 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... |
ORPHA:411696 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... |
OMIM:301220 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... |
OMIM:618944 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Gastrointestinal hemorrhage, Increased total bilirubin, Scle... |
ORPHA:2137 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive |
OMIM:209950 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... |
OMIM:613493 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... |
ORPHA:3243 |
Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, ... |
OMIM:614602 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... |
OMIM:300400 |
Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent otitis media, Lymphopenia |
OMIM:615401 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Autoi... |
OMIM:240500 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constricti... |
ORPHA:67 |
Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, In... |
OMIM:612783 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Systemic lupus erythema... |
ORPHA:48377 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... |
OMIM:243700 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Partial absence ... |
OMIM:620430 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... |
ORPHA:911 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Sideroblastic anemia, Sensorineural hearing impairment, Megaloblastic anemia, Abno... |
OMIM:598500 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... |
ORPHA:169154 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Eleva... |
OMIM:614576 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:612692 |
Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... |
OMIM:619381 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Decreased circulating carnitine concentration, Hyperammonemia, Elevated ... |
OMIM:201475 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Elevated... |
OMIM:615895 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot... |
OMIM:600501 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thromb... |
ORPHA:444463 |
Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:620282 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Sepsis In Premature Infants |
|
Diarrhea, Increased circulating interleukin 6 concentration, Vomiting, Decreased liver function, ... |
ORPHA:90051 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... |
OMIM:616433 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... |
OMIM:615513 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Recurrent bronchitis, Men... |
ORPHA:331235 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Autoim... |
ORPHA:277 |
Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... |
ORPHA:1215 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Antinuclear antibody positivity, Increased circulating IgA level, Autoimmune hemolytic anemia, In... |
OMIM:617388 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Shigellosis |
|
Anorexia, Abdominal pain, Abnormal blood ion concentration, Intestinal perforation, Bloody mucoid... |
ORPHA:810 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Anoperineal fistula, Increased circulating IgE level, Pancolitis, Eosinophilic infiltration of th... |
OMIM:618213 |
Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... |
ORPHA:555905 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Anti-liver cytosolic antigen type 1 antibody positivity, Antinuclear antibody positivity, Anti-sm... |
ORPHA:562639 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Cytoplasmic antineutrophil antibody positivity, Antiphospholipid antibody positivity, Antinuclear... |
OMIM:615934 |
Immunodeficiency 13 |
|
Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positiv... |
OMIM:615518 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmune thrombocytopenia, Decreased lymphocyte apoptosis, Autoimmunity, Increased circulating ... |
OMIM:614470 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Abdominal pain, Meningitis, Hyperkalemia, Intestinal perforation, Abnormal circulating ... |
ORPHA:544482 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... |
OMIM:106300 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Anticardiolipin IgG antibody positivity, Decreased circulating complement C3 concentration, Autoi... |
OMIM:615559 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Progressive sensorineural hearing impairment, Iron deficiency anemia, Thrombocytopenia, Neutropen... |
ORPHA:494444 |
Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Increased circulating antibody lev... |
ORPHA:3261 |
Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... |
OMIM:615947 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Diarrhea, Ecz... |
ORPHA:391487 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Cyclic Neutropenia |
|
Sepsis, Periodontitis, Opportunistic infection, Recurrent tonsillitis, Otitis media, Peritonitis,... |
ORPHA:2686 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Alopecia Totalis |
|
Inflammation of the large intestine |
ORPHA:700 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Neutr... |
OMIM:607594 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic an... |
ORPHA:3240 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Autoimmune thrombocytopenia, Chronic decreased ci... |
OMIM:613496 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Diarrhea, Decreased specific anti-polysaccharide antibody le... |
OMIM:301000 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... |
OMIM:301082 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Anal fissure, C... |
OMIM:618935 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis |
OMIM:620133 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Anti-thyroglobulin antibody positivity, Decreased circulating Ig... |
OMIM:615577 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia |
OMIM:618999 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... |
OMIM:617241 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Elevated circulating creatinine concentration... |
ORPHA:90038 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:276 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
C3 Glomerulopathy |
|
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Decreased circu... |
ORPHA:329918 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Hashimoto thyroid... |
ORPHA:275 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hearing impairment, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic... |
OMIM:617780 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointes... |
ORPHA:73263 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Malabsorption, Eosinop... |
OMIM:615508 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Hepatic failure, Recurrent viral infections, Secretory diarrhea, Persistent E... |
OMIM:619573 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating... |
ORPHA:48435 |
Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... |
ORPHA:793 |
Angiostrongyliasis |
|
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... |
ORPHA:74 |
Inflammatory Pseudotumor Of The Liver |
|
Autoimmune antibody positivity, Increased hepatitis B virus antibody level |
ORPHA:90003 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 23 |
|
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:615816 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449432 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent otitis media, Lymphopenia, Hepato... |
OMIM:618986 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... |
ORPHA:91139 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... |
OMIM:619846 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... |
OMIM:147060 |
Igg4-Related Thyroid Disease |
|
Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hashimoto... |
ORPHA:64744 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Hyperlipidemia, Hyperuricemia, Pancreatitis, Protubera... |
OMIM:232220 |
Thymoma |
|
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Decreased circulating ant... |
ORPHA:99867 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Hermansky-Pudlak Syndrome 1 |
|
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia |
OMIM:203300 |
Immunodeficiency 115 With Autoinflammation |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:620632 |
Immunodeficiency 112 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620449 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
Immunodeficiency 43 |
|
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... |
OMIM:241600 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Increased circulating IgE level, Autoimmunity, Increased circulating... |
ORPHA:443811 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:331206 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... |
OMIM:616881 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Activated Pi3K-Delta Syndrome |
|
Decreased circulating antibody level, Autoimmunity, Increased circulating IgM level |
ORPHA:397596 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis |
OMIM:301108 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Ataxia-Telangiectasia |
|
Lymphopenia, Type II diabetes mellitus, Tremor, Diabetes mellitus |
ORPHA:100 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Hyperlipidemia... |
OMIM:232240 |
Syndromic Diarrhea |
|
Intractable diarrhea, Panhypogammaglobulinemia, Villous atrophy, Colitis, Hepatoblastoma, Gastrit... |
ORPHA:84064 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased circula... |
OMIM:615758 |
Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Diabetes mellitus, Exaggerated startle response |
OMIM:184850 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Hyperlipidemia, Gout, Hyperuricemia... |
ORPHA:79259 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Atopic dermatitis, Diarrhea, Increased circulating interleukin 6 concentration, Conjunctivitis, P... |
OMIM:620376 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Autoimmune h... |
OMIM:301078 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:604250 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... |
ORPHA:71272 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... |
ORPHA:309031 |
Cocaine Intoxication |
|
Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause... |
ORPHA:90068 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Autoimmunity, Decreased circulating antibody level, Autoimmune h... |
OMIM:613011 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Increased circula... |
OMIM:616005 |
Sneddon Syndrome |
|
Lymphopenia, Facial palsy, Tremor |
OMIM:182410 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Sensorineural hearing impairment, Thrombocytopenia, A... |
ORPHA:3226 |
Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Exaggerated startle response |
ORPHA:3198 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu... |
OMIM:308240 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia |
OMIM:619705 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619510 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:301081 |
Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Chronic hepatic failu... |
ORPHA:171 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... |
ORPHA:2908 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... |
ORPHA:99027 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Elevated circulating C-reactive protein concentration, Osteomyelitis, Inflammation of the large i... |
ORPHA:70591 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Systemic lupus erythematosus, Autoimmuni... |
ORPHA:2298 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619752 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... |
ORPHA:90321 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:169160 |
Reactive Arthritis |
|
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... |
ORPHA:29207 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hemolytic anemia, Sensorineural hearing impairment |
ORPHA:529799 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic failure, Hepatitis, Abnormal circulating lipid concentration, Increased ... |
ORPHA:186 |
Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level |
OMIM:212050 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
Immunodeficiency 114, Folate-Responsive |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:620603 |
Igg4-Related Kidney Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... |
ORPHA:449395 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia |
OMIM:620365 |
Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem auditory re... |
ORPHA:79330 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... |
ORPHA:101085 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Vomiting, Eczematoid dermatitis, Chronic hepatitis, Malabso... |
ORPHA:3260 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr... |
ORPHA:707 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, A... |
ORPHA:79078 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... |
OMIM:619708 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Increased circulating antibody level, Iridocyclitis, Arthrit... |
OMIM:181000 |
Ataxia-Telangiectasia |
|
Lymphopenia, Glucose intolerance, Decreased proportion of CD4-positive helper T cells, Intention ... |
OMIM:208900 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
Wiskott-Aldrich Syndrome |
|
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... |
ORPHA:906 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Esophagitis, Decreased serum zinc, Recurrent infections, Feeding difficulties |
ORPHA:541423 |
Fumarase Deficiency |
|
Hepatic failure, High palate, Hyperbilirubinemia, Necrotizing enterocolitis |
OMIM:606812 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sensorineural hearing impairment, Abnormal T cell morph... |
ORPHA:760 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep... |
OMIM:609136 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:618523 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Autoimmunity |
ORPHA:2902 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Posteriorly rotated ears, Neutropenia, Schistocytosis, Anemia, Thrombocy... |
OMIM:301110 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
Staphylococcal Necrotizing Pneumonia |
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Leukopenia, Leukocytosis, Diabetes mellitus, Neutrophilia |
ORPHA:36238 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Hypoglycemia, EEG with burst suppression, Hyperglycemia, Hypsarrhythmia, Thrombocytopenia, Exagge... |
OMIM:620423 |
Adult Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Abnormally low T cell receptor excision circle level, Lymphopenia, Otitis media, Splenomegaly, Ap... |
OMIM:602450 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Lymphopenia |
OMIM:207731 |
Peeling Skin Syndrome 1 |
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Increased circulating IgE level |
OMIM:270300 |
Prolidase Deficiency |
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Increased circulating antibody level, Systemic lupus erythematosus |
OMIM:170100 |
Herpes Simplex Virus Encephalitis |
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Leukocytosis, EEG abnormality, Neutrophilia |
ORPHA:1930 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Immunodeficiency 9 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612782 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
Schnitzler Syndrome |
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Increased circulating IgM level |
ORPHA:37748 |
Immunodeficiency 67 |
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Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:607676 |
Rift Valley Fever |
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Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre... |
ORPHA:909 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Low-set ears, Posteriorly rotated ears, Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Hearing impairment, Exaggerated startle response |
OMIM:620114 |
Hypotrichosis Simplex Of The Scalp |
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Increased circulating IgE level |
ORPHA:90368 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response, Optic nerve hypoplasia, Macrotia, EEG with generalized slow activity |
OMIM:617864 |
Relapsing Fever |
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Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia |
ORPHA:91547 |
Tick-Borne Encephalitis |
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Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... |
ORPHA:297 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Esophagitis, Achalasia, Feeding difficulties, Elevated circulating creatine kinase concentration |
OMIM:615356 |
Purine Nucleoside Phosphorylase Deficiency |
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Lymphopenia, Otitis media, Tremor, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pres... |
OMIM:613179 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Increased circulating IgE level, Anti-glutamic acid decarboxylase antibody positivity, Autoimmune... |
OMIM:304790 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Increased circulating IgE level |
ORPHA:217390 |
Icf Syndrome |
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Low-set ears, Lymphopenia, Anemia, Abnormality of neutrophils |
ORPHA:2268 |
Q Fever |
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Anticardiolipin IgG antibody positivity, Increased circulating antibody level, Lupus anticoagulan... |
ORPHA:781 |
Hereditary Hyperekplexia |
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Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:3197 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Papa Syndrome |
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Increased circulating antibody level |
ORPHA:69126 |
Tracheobronchopathia Osteochondroplastica |
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Pneumonia, Recurrent pneumonia, Esophagitis, Recurrent respiratory infections |
ORPHA:3348 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Increased circulating IgE level, Decreased circulating IgA level, Autoimmune hemolytic anemia, De... |
OMIM:102700 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Netherton Syndrome |
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Increased circulating IgE level, Decreased circulating IgG level |
OMIM:256500 |
Primary Intestinal Lymphangiectasia |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Absent natural killer cells, Recurrent otitis media, Lymphopenia, Impaired lymphocyte transformat... |
OMIM:600802 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Increased circulating IgE level |
OMIM:614328 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Hearing impairment, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, T... |
ORPHA:508542 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Hearing impairment, Tremor, Exaggerated startle response |
OMIM:620327 |
Cockayne Syndrome B |
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Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... |
OMIM:133540 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Rheumatoid arthr... |
ORPHA:183675 |
Cockayne Syndrome A |
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Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... |
OMIM:216400 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Sandhoff Disease, Infantile Form |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
Tularemia |
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Increased circulating antibody level |
ORPHA:3392 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Vici Syndrome |
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Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Leishmaniasis |
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Increased circulating antibody level |
ORPHA:507 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hearing impairment, Lymphopenia, Hepatosplenomegaly, Leukopenia, Otitis media, Splenomegaly, Sens... |
OMIM:612541 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Anemia, Brain abscess, Liver abscess, Neutrophilia |
ORPHA:54251 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... |
OMIM:256040 |
Multiple Endocrine Neoplasia, Type I |
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Peptic ulcer, Diarrhea, Esophagitis, Zollinger-Ellison syndrome, Hypercalcemia |
OMIM:131100 |
Coccidioidomycosis |
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Increased circulating IgG level, Increased circulating IgM level |
ORPHA:228123 |
Urban-Rogers-Meyer Syndrome |
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Increased circulating IgE level |
ORPHA:3409 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Decreased circulating IgA level, Increased circulating IgM level |
OMIM:242860 |
Encephalitis Lethargica |
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Autoimmunity, Increased circulating antibody level |
ORPHA:83600 |
Trisomy 10P |
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Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... |
ORPHA:171929 |
Frontometaphyseal Dysplasia 2 |
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Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... |
OMIM:617137 |
Developmental And Epileptic Encephalopathy 49 |
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Optic atrophy, EEG abnormality, Macrotia, Exaggerated startle response |
OMIM:617281 |
Agammaglobulinemia, X-Linked |
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Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... |
OMIM:300755 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Transcobalamin Ii Deficiency |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
Brucellosis |
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Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive |
ORPHA:1304 |
Thrombocytopenia 1 |
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Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
Congenital Disorder Of Glycosylation, Type Ig |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
Sandhoff Disease |
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Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response |
OMIM:268800 |
Psoriasis 14, Pustular |
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Leukocytosis, Neutrophilia |
OMIM:614204 |
Asparagine Synthetase Deficiency |
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EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... |
OMIM:615574 |
Alg12-Cdg |
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Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
Dyskeratosis Congenita, Digenic |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
Plaa-Associated Neurodevelopmental Disorder |
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Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... |
ORPHA:521426 |
Zollinger-Ellison Syndrome |
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Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Esophagitis, Intestinal obstru... |
ORPHA:913 |
Immunodeficiency 55 |
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Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
Combined Oxidative Phosphorylation Deficiency 58 |
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Low-set ears, Optic atrophy, Hypoglycemia, Exaggerated startle response |
OMIM:620451 |
Bardet-Biedl Syndrome |
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Inflammation of the large intestine, Decreased HDL cholesterol concentration, Otitis media, Agang... |
ORPHA:110 |
Netherton Syndrome |
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Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Impaired lympho... |
ORPHA:35078 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... |
ORPHA:221139 |
Acute Generalized Exanthematous Pustulosis |
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Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia |
OMIM:617099 |
Igg4-Related Pachymeningitis |
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Increased circulating IgG4 level, Reduced circulating complement concentration |
ORPHA:449427 |
Myotonic Dystrophy 2 |
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Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Abnormal pinna morphology, Exaggerated startle response |
ORPHA:438216 |
Igg4-Related Ophthalmic Disease |
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Increased circulating IgE level, Antinuclear antibody positivity, Increased circulating IgG4 level |
ORPHA:449563 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
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Optic atrophy, Hearing impairment, Laryngeal dystonia, Tremor, Exaggerated startle response, Dyst... |
ORPHA:845 |
Gm1 Gangliosidosis Type 1 |
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Low-set ears, Hearing impairment, Hepatosplenomegaly, Exaggerated startle response, Macrotia |
ORPHA:79255 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Glycine Encephalopathy With Normal Serum Glycine |
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Low-set ears, Optic atrophy, Exaggerated startle response |
OMIM:617301 |
Zika Virus Disease |
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Increased circulating IgM level |
ORPHA:448237 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Liver Failure, Infantile, Transient |
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Decreased circulating IgG level |
OMIM:613070 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
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Increased circulating IgE level, Autoimmune thrombocytopenia, Increased circulating IgA level, Au... |
OMIM:620565 |
Pneumocystosis |
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Increased circulating antibody level |
ORPHA:723 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99413 |
Turner Syndrome |
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High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:881 |
Mosaic Monosomy X |
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High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99228 |
Monosomy X |
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High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... |
ORPHA:99226 |
Immunodeficiency 47 |
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Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t... |
OMIM:300972 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgG1 level, Decreased circulating IgA level, Autoimmunity, Decreased circul... |
ORPHA:90363 |
Aspergillosis |
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Increased circulating IgE level |
ORPHA:1163 |
Trichothiodystrophy 3, Photosensitive |
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Increased circulating IgA level |
OMIM:616395 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:508533 |
Crimean-Congo Hemorrhagic Fever |
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Increased circulating IgG level, Increased circulating IgM level |
ORPHA:99827 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Low-set ears, Optic atrophy, Posteriorly rotated ears, Exaggerated startle response |
OMIM:617527 |
Mgat2-Cdg |
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Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:79329 |
Immunodeficiency 17 |
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Chronic decreased circulating IgG2, Autoimmune hemolytic anemia |
OMIM:615607 |
Osteopetrosis, Autosomal Recessive 7 |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Increased circulating IgA level |
ORPHA:343 |
Lassa Fever |
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Increased circulating IgM level |
ORPHA:99824 |
Mend Syndrome |
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Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Optic atrophy, Exaggerated startle response |
OMIM:253800 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Increased circulating IgG level, Increased circulating antibody level |
ORPHA:91500 |
Mucopolysaccharidosis-Plus Syndrome |
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Bone marrow hypocellularity, Increased circulating IgM level |
OMIM:617303 |
Lead Poisoning |
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Increased circulating IgE level, Abnormality of humoral immunity |
ORPHA:330015 |
Mowat-Wilson Syndrome |
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Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion... |
ORPHA:2152 |
Bloom Syndrome |
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Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:210900 |
Ebola Hemorrhagic Fever |
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Increased circulating antibody level |
ORPHA:319218 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
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Increased circulating IgE level |
ORPHA:2314 |
Viss Syndrome |
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Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level |
OMIM:619472 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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