Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... |
OMIM:619437 |
Immunodeficiency 24 |
|
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... |
OMIM:242870 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... |
OMIM:615615 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Immunodeficiency 19 |
|
Diarrhea, Lymphopenia |
OMIM:615617 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia |
OMIM:200900 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 20 |
|
BCGitis, Severe varicella zoster infection, Recurrent oral herpes, Reduced natural killer cell ac... |
OMIM:615707 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Decreased circulating antibody level, Recurrent infections, Re... |
OMIM:618261 |
Immunodeficiency 15A |
|
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... |
OMIM:618204 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Reticular Dysgenesis |
|
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency 79 |
|
Recurrent upper respiratory tract infections, Recurrent otitis media, Decreased proportion of CD4... |
OMIM:619238 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media |
OMIM:616941 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... |
OMIM:613493 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Recu... |
OMIM:618982 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Rectal prolapse, Stercoral ulcer, Anemia, Epis... |
ORPHA:209964 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, A... |
OMIM:614470 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis |
OMIM:619398 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... |
ORPHA:169079 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... |
OMIM:600802 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Lack of T cel... |
ORPHA:277 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... |
ORPHA:276 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... |
OMIM:618944 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... |
OMIM:300988 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... |
OMIM:614493 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Immunodeficiency 25 |
|
Recurrent herpes, Complete or near-complete absence of specific antibody response to tetanus vacc... |
OMIM:610163 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Recurrent infections, Histiocytosis |
OMIM:235900 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T ly... |
OMIM:619164 |
Lactose Intolerance, Adult Type |
|
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... |
OMIM:223100 |
Candidiasis, Familial, 2 |
|
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... |
OMIM:212050 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... |
ORPHA:169154 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... |
OMIM:300400 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Caspase 8 Deficiency |
|
Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ... |
OMIM:607271 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Immunodeficiency 17 |
|
Eczema, Abnormal intestine morphology, Recurrent otitis media, Decreased proportion of CD8-positi... |
OMIM:615607 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... |
OMIM:606843 |
Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Recurrent funga... |
OMIM:603554 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... |
OMIM:616873 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Dementia, Gait disturbance, Splenomegaly, Ataxia |
ORPHA:2274 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... |
ORPHA:35078 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... |
ORPHA:217390 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... |
OMIM:618108 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... |
OMIM:619510 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections |
OMIM:615214 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... |
OMIM:613501 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
Immunodeficiency 13 |
|
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... |
OMIM:615518 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respiratory tract i... |
OMIM:602450 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid le... |
OMIM:616871 |
X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... |
ORPHA:2442 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Pneumonia, Arthritis, Panhypogammaglobulinemia, Otitis media, T lymphocytopeni... |
OMIM:601457 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... |
ORPHA:70593 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Lymph node hypoplasia, Impair... |
OMIM:613179 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... |
OMIM:617241 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... |
OMIM:102700 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... |
ORPHA:280397 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... |
OMIM:150550 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... |
OMIM:611926 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... |
OMIM:601495 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Abnormal lymphocyte morpholo... |
OMIM:609529 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Esophagitis, Volvulus, G... |
OMIM:619350 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Diarrhea, T lymphocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:608971 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... |
ORPHA:331206 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Enlarged tonsils |
ORPHA:168621 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... |
OMIM:615285 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... |
ORPHA:231154 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... |
OMIM:607676 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... |
OMIM:611521 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... |
OMIM:613502 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Recurrent ... |
ORPHA:2688 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... |
OMIM:300853 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... |
OMIM:618534 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... |
OMIM:617514 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Immunodeficiency 68 |
|
B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel... |
OMIM:612260 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Lymphadenopath... |
OMIM:605258 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Recurrent viral infections, Splenomegaly, Reduced natural killer c... |
OMIM:609981 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased circulating IgG le... |
OMIM:618394 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Sepsis, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating a... |
OMIM:616100 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Min... |
OMIM:617006 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Increased circulating antibo... |
OMIM:618495 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir... |
OMIM:606367 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity |
OMIM:300830 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Type I diabetes mell... |
OMIM:614700 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis |
OMIM:619549 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Pelvic Organ Prolapse, Susceptibility To |
|
Bowel incontinence, Rectal prolapse |
OMIM:176780 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
ORPHA:2643 |
Immunodeficiency 48 |
|
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... |
ORPHA:424019 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... |
OMIM:614699 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... |
OMIM:613500 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... |
OMIM:613494 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... |
ORPHA:169160 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... |
OMIM:266600 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... |
ORPHA:100024 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis |
ORPHA:158025 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Trehalase Deficiency |
|
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain |
ORPHA:103909 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... |
OMIM:174900 |
Pgm3-Cdg |
|
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... |
ORPHA:443811 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Lymphadenopathy, Decreased circulating IgA level, Decreased circu... |
OMIM:608106 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Recurrent respiratory infections, Neutropenia, Decreased circula... |
OMIM:251190 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... |
ORPHA:572 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... |
OMIM:616050 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... |
OMIM:613101 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... |
OMIM:242860 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... |
OMIM:242700 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent cutaneous abscess formation |
ORPHA:499 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Recurrent pneumonia... |
OMIM:619644 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Increased circulating IgE level, Eosinophilia, Recurrent respiratory infections, Recurrent otitis... |
OMIM:618523 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... |
ORPHA:158057 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... |
OMIM:209950 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Hepatomegaly, Impaired T cell function, Lymphadenopathy, Decrease... |
OMIM:240500 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Vomiting, Neoplasm of the rectum, ... |
ORPHA:2869 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... |
OMIM:308240 |
Diarrhea 6 |
|
Diarrhea, Abdominal pain |
OMIM:614616 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... |
OMIM:616005 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 46 |
|
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... |
OMIM:616740 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... |
OMIM:193670 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Acne, Splenomegaly, Recurr... |
OMIM:300635 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... |
OMIM:612541 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Pneumonia, Monocytosis, Leukemia, Rhinitis, Recurrent ... |
ORPHA:486 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Volvulus, Intussusception, Intestinal bleeding, Thromboc... |
OMIM:112200 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Splenomegaly |
OMIM:615947 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... |
ORPHA:37748 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Diarrhea |
OMIM:618963 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Hemolytic anemia |
OMIM:616744 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Bloody diarrhea, Rectal prolapse, Schistocytosis, Vomiting, Peritonitis, Microangio... |
ORPHA:90038 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Decreased serum insulin-like growth factor 1, Abnormal size of pituitary... |
ORPHA:293978 |
Immunodeficiency 22 |
|
Diarrhea, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent sinopulmonary infections, ... |
OMIM:243700 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... |
OMIM:608184 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Chronic intestinal candidiasis |
OMIM:269650 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Re... |
OMIM:617780 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Agammaglobulinemia, Enteroviral dermatomyositis syndrome, Pyoderma, Lymph ... |
OMIM:300755 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Skin rash, Thro... |
OMIM:603552 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Recurrent infections, Lymphopenia, Splenomegaly |
OMIM:605309 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections |
OMIM:616911 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Eczema, Villous atrophy, Chronic mucocutaneous candidiasis, Lympho... |
OMIM:614162 |
Immunodeficiency 23 |
|
Severe varicella zoster infection, Neutropenia, Abscess, Increased circulating IgG level, Chronic... |
OMIM:615816 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... |
OMIM:300310 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Sepsis, Anemia, Abnormality of the ly... |
OMIM:612840 |
Wiskott-Aldrich Syndrome |
|
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent herpes, Decreased c... |
OMIM:301000 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Selective Igm Deficiency |
|
Sepsis, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Recurrent infecti... |
ORPHA:331235 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... |
OMIM:301045 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... |
OMIM:308230 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... |
OMIM:604416 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Abdominal distention, Dyspepsia, Malabsorption, Chronic diarrhea, Abnormal smal... |
ORPHA:103907 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... |
ORPHA:275 |
Candidiasis, Familial, 1 |
|
Chronic mucocutaneous candidiasis, Cutaneous anergy, Abnormality of the endocrine system, Recurre... |
OMIM:114580 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Constipation, Abnormal gastric mucosa morphology... |
ORPHA:263665 |
Radiation Proctitis |
|
Tenesmus, Abnormality of gastrointestinal vasculature, Rectal fistula, Intestinal obstruction, Ab... |
ORPHA:70475 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoderma, Absent ... |
OMIM:307200 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal colic |
ORPHA:35122 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Recurrent skin infections, Monocytosis |
OMIM:610680 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Premature ova... |
ORPHA:100025 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Malabsorption, Diarrhea, Abdominal pain |
OMIM:222900 |
Ataxia-Telangiectasia |
|
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... |
OMIM:208900 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... |
ORPHA:221139 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt... |
OMIM:615122 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... |
ORPHA:79124 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffling gait, Fall... |
ORPHA:412066 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Secretory diarrhea, Diarrhea |
OMIM:600351 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Reticular Dysgenesis |
|
Sepsis, Leukopenia, Decreased circulating antibody level, Anemia, Recurrent respiratory infection... |
ORPHA:33355 |
Angioedema, Hereditary, 8 |
|
Abdominal pain, Diarrhea, Episodic vomiting |
OMIM:619367 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Decreased circulating antibody level, Recurrent infections, R... |
OMIM:616576 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Reduced natural ki... |
OMIM:608233 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:615206 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections |
OMIM:617744 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... |
OMIM:616084 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Recurrent protozoan... |
OMIM:209920 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... |
OMIM:611762 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Recurrent in... |
OMIM:256500 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased... |
OMIM:613011 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... |
ORPHA:507 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Hepatomegaly, Decreased specific pneumococcal antibody level, Com... |
OMIM:613496 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea |
OMIM:614102 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Tularemia |
|
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Abn... |
ORPHA:3392 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapu... |
ORPHA:98848 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... |
ORPHA:26790 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Diarrhea 2, With Microvillus Atrophy |
|
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Cap Polyposis |
|
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal... |
ORPHA:160148 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... |
ORPHA:83471 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Ganglioneuroma |
|
Colorectal polyposis, Functional intestinal obstruction, Episodic abdominal pain, Gastrointestina... |
ORPHA:251992 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Vomiting, Anemia, Malabsorption, S... |
ORPHA:2070 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... |
ORPHA:90362 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depre... |
OMIM:619191 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia |
OMIM:243150 |
Immunodeficiency 55 |
|
Lymphadenopathy, Eczema, Recurrent skin infections, Neutropenia |
OMIM:617827 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash |
OMIM:618048 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology |
OMIM:606528 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Lymphadenitis, Histoplasmosis, Disseminated no... |
ORPHA:319552 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... |
OMIM:304790 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... |
OMIM:612692 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Chronic active Epstein-Barr virus infection, Abnormal cytokine signaling, Neutropen... |
ORPHA:158048 |
Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Ménétrier Disease |
|
Anorexia, Hypochromic microcytic anemia, Vomiting, Helicobacter pylori infection, Nausea, Abnorma... |
ORPHA:2494 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean cor... |
OMIM:615234 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Inflammation of the large intestine, Neutropenia, Eczema, Colitis, Chronic gastritis, ... |
OMIM:608809 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM |
OMIM:300636 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomega... |
OMIM:618935 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Eczema, Neutropenia, Leukopenia, Panniculitis, Bone marrow hypocellularity, An... |
ORPHA:508542 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Neutropenia, Leukopenia, Malabsorption, Thrombocytopenia, Diarrh... |
OMIM:229050 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia, Anemia, M... |
ORPHA:79076 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Esophagitis, Eosinophilia, Vomiting |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Esophagitis, Eosinophilia, Vomiting |
OMIM:610247 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... |
ORPHA:449400 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
Mirage Syndrome |
|
Adrenal insufficiency, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Thrombocy... |
OMIM:617053 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinop... |
OMIM:607115 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Increased circulating IgE level |
ORPHA:2902 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Chronic otitis media, Bone marrow hy... |
ORPHA:3226 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Recurrent infections |
OMIM:618985 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Bronchiectasis, Abdominal distenti... |
OMIM:619445 |
Congenital Short Bowel Syndrome |
|
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... |
OMIM:615237 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Colitis, Esophageal stenosis, Leukopenia |
OMIM:615190 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Severe varicella zoster infection, Defective T cell proliferation, ... |
OMIM:618213 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Isolated Agammaglobulinemia |
|
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... |
ORPHA:229717 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Sandhoff Disease |
|
Hepatomegaly, Progressive psychomotor deterioration, Splenomegaly, Ataxia, Motor deterioration |
ORPHA:796 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... |
OMIM:605361 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Hepatomegaly, Sepsis, Lymphadenopathy, Recurrent fungal infection... |
ORPHA:169090 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... |
OMIM:233710 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Immunodeficiency 82 With Systemic Inflammation |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total... |
OMIM:619381 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Dementia, Progressive neurologic deterioration, Splenomegaly, Ataxia, Pancytopenia,... |
OMIM:231000 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Iron deficiency anemia, Gastrointestinal carcinoma, Intussusception, Intestinal ... |
OMIM:175200 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Hepatomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytop... |
OMIM:615846 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Lymphadenopathy, Recurrent infections, Thrombocytopenia, Autoimmu... |
OMIM:612783 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Recurrent viral upper respiratory tract infections, Decreased ci... |
OMIM:615577 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Thyroiditis, Rheumatoid arthritis, Jejunoileal diverti... |
OMIM:223320 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Bloody diarrhea, Constrictive pericarditis, Lung abscess, Protracted diarrhea, Gast... |
ORPHA:67 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... |
ORPHA:54251 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Splenomegaly... |
OMIM:617591 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Inflammation of the large intestine, Lymphocytosis |
OMIM:617718 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Coproporphyria, Hereditary |
|
Vomiting, Splenomegaly, Diarrhea, Abdominal pain, Constipation |
OMIM:121300 |
Rabies |
|
Diarrhea, Nausea and vomiting, Anorexia |
ORPHA:770 |
Sézary Syndrome |
|
Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte m... |
ORPHA:3162 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal stenosi... |
ORPHA:424016 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... |
OMIM:233690 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... |
ORPHA:158061 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Diarrhea, Villous atrophy, Vomiting |
OMIM:615863 |
Cyclic Neutropenia |
|
Sinusitis, Enterocolitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis m... |
ORPHA:2686 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Bone Marrow Failure Syndrome 5 |
|
Decreased circulating antibody level, Anemia, Pure red cell aplasia |
OMIM:618165 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Hirschsprung Disease |
|
Nausea and vomiting, Aganglionic megacolon, Functional abnormality of the gastrointestinal tract,... |
ORPHA:388 |
Meige Disease |
|
Recurrent bacterial skin infections, Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis, Villous atrophy, Intractable diarrhea |
OMIM:613217 |
Anal Sphincter Dysplasia |
|
Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation |
OMIM:105563 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Lichtenstein Syndrome |
|
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections |
OMIM:246550 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... |
OMIM:137100 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... |
OMIM:614034 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lymphadenopathy, Chr... |
ORPHA:47612 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abdominal d... |
ORPHA:95427 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Aspergillosis |
|
Infectious encephalitis, Neutropenia, Invasive pulmonary aspergillosis, Increased circulating IgE... |
ORPHA:1163 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Boutonneuse Fever |
|
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ma... |
ORPHA:83313 |
Hypoglossia With S |