Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Reticular Dysgenesis |
|
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... |
OMIM:267500 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci... |
OMIM:615897 |
Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:312863 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... |
OMIM:300400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ... |
OMIM:617241 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... |
OMIM:611926 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... |
OMIM:618261 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... |
ORPHA:169154 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absen... |
ORPHA:277 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... |
OMIM:300853 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... |
OMIM:615401 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Indolent Systemic Mastocytosis |
|
Skin rash, Mastocytosis, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Abnor... |
ORPHA:98848 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... |
OMIM:618987 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:615592 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia |
OMIM:615214 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... |
OMIM:607271 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... |
OMIM:614470 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... |
OMIM:615206 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... |
ORPHA:331206 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... |
OMIM:618534 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... |
OMIM:301082 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Decreased lymphocyte proliferation in response to ... |
ORPHA:911 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... |
OMIM:618982 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... |
OMIM:600802 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia |
OMIM:247800 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea... |
OMIM:618108 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni... |
OMIM:619510 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... |
OMIM:610163 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Immunodeficiency 68 |
|
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess |
OMIM:612260 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... |
OMIM:615607 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
Immunodeficiency 44 |
|
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... |
OMIM:616636 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased... |
ORPHA:276 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ... |
OMIM:308240 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Immunodeficiency 81 |
|
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D... |
ORPHA:35078 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... |
OMIM:153600 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Lymphopenia,... |
OMIM:243150 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,... |
ORPHA:859 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Reduced natural killer cell activity, Pancytopenia, Th... |
OMIM:616050 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Increased ci... |
OMIM:618495 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:606367 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Absent circulating B cells, Agammaglob... |
OMIM:613501 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... |
OMIM:613011 |
Aggressive Systemic Mastocytosis |
|
Anemia, Maculopapular exanthema, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased propo... |
ORPHA:98850 |
Immunodeficiency 62 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:618459 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 leve... |
OMIM:208900 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level |
OMIM:152800 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib... |
ORPHA:572 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym... |
OMIM:609981 |
Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... |
ORPHA:100024 |
Immunodeficiency 40 |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic granuloma, Hepatom... |
OMIM:616433 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Jaundice... |
ORPHA:79124 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... |
OMIM:613500 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... |
OMIM:619752 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep... |
OMIM:301045 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... |
OMIM:619652 |
Mirage Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Adrenal insufficiency, Decreased testicular size, L... |
OMIM:617053 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Type I diabetes mellitus, Absent circulating B cells, Decreased ... |
OMIM:619707 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgG lev... |
OMIM:243700 |
Selective Igm Deficiency |
|
Lymphadenitis, Decreased circulating IgG level, Decreased circulating total IgM, Thyroid carcinom... |
ORPHA:331235 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Decreased circulating antibody level, Abnormally low T cell receptor excision circle level, Pancy... |
OMIM:619767 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... |
ORPHA:70593 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia, Increased ... |
OMIM:242860 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Decreased T cell activation, Absence of secondary se... |
ORPHA:66628 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... |
OMIM:301000 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... |
OMIM:102700 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coo... |
ORPHA:83471 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... |
OMIM:612692 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Decreased T cell activation, Absence of secondary se... |
ORPHA:179494 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... |
OMIM:240500 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... |
OMIM:618048 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Hepatom... |
ORPHA:158061 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... |
OMIM:616100 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia |
OMIM:615966 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Patent ductus arteriosus, Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythro... |
OMIM:612541 |
Immunodeficiency 49 |
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T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
Syndromic Diarrhea |
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Patent ductus arteriosus, Hypothyroidism, Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymu... |
ORPHA:84064 |
Adult Idiopathic Neutropenia |
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Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... |
ORPHA:2688 |
Immunodeficiency 32B |
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Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, E... |
OMIM:226990 |
Stormorken-Sjaastad-Langslet Syndrome |
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Asplenia, Anemia |
ORPHA:3204 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt... |
OMIM:617780 |
Hemophagocytic Syndrome Associated With An Infection |
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Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... |
ORPHA:158048 |
Agammaglobulinemia, X-Linked |
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Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Bone Marrow Failure Syndrome 6 |
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Hypothyroidism, Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, In... |
OMIM:618849 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
Acute Monoblastic/Monocytic Leukemia |
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Central hypothyroidism, Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia... |
ORPHA:514 |
Immunodeficiency 22 |
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Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev... |
OMIM:615758 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... |
OMIM:617099 |
Congenital Disorder Of Glycosylation, Type Iic |
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Periodontitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility, Pneumonia |
OMIM:266265 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hypereosinophilia, T lymphocytopenia, Decreased circulating total IgM, Decreased lymphocyte proli... |
ORPHA:508533 |
Hermansky-Pudlak Syndrome 2 |
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Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... |
OMIM:608233 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen |
OMIM:602361 |
Autoimmune Polyendocrinopathy Type 4 |
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Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Decreased ... |
ORPHA:227990 |
Lymphedema, Primary, With Myelodysplasia |
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Acute myeloid leukemia, Decreased CD4:CD8 ratio, Leukemia, Pancytopenia |
OMIM:614038 |
Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Leukopenia, Biliary cirrhosis, Autoimmune hypoparathyroidism, Non-caseating epithelioid ... |
ORPHA:227982 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Increased proportion of exhausted T cells |
OMIM:618307 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Hashimoto thyroiditis, Decreased circulating IgG level, Decreased circulating IgA level, Decrease... |
ORPHA:275 |
Autoimmune Lymphoproliferative Syndrome |
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Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... |
ORPHA:3261 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac... |
OMIM:618935 |
Heme Oxygenase 1 Deficiency |
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Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... |
OMIM:614034 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Wiskott-Aldrich Syndrome |
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Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
Mastocytosis |
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Mastocytosis, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
Primary Intestinal Lymphangiectasia |
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Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... |
ORPHA:90362 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Asplenia |
OMIM:618948 |
Immunodeficiency 9 |
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Hypoplasia of the thymus |
OMIM:612782 |
Autoinflammatory Disease, Systemic, X-Linked |
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Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Hepatos... |
OMIM:301081 |
Immunodeficiency 55 |
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Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia |
OMIM:617827 |
Diffuse Cutaneous Mastocytosis |
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Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... |
ORPHA:79456 |
Pearson Syndrome |
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Hypothyroidism, Anemia, Abnormality of the liver, Decreased response to growth hormone stimulatio... |
ORPHA:699 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial skin infections, Anemia, Neutropenia, Periodontitis, Skin rash, Abnormal plat... |
ORPHA:167 |
Necrobiosis Lipoidica |
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Granuloma, Inflammatory abnormality of the skin, Abnormality of neutrophil physiology |
ORPHA:542592 |
Laterality Defects, Autosomal Dominant |
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Asplenia |
OMIM:601086 |
Immunodeficiency 108 With Autoinflammation |
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Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
Chronic Beryllium Disease |
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Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy |
ORPHA:133 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... |
ORPHA:221139 |
Hypoglossia With Situs Inversus |
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Asplenia, Polysplenia |
OMIM:612776 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Spontaneous hemolytic crises, Cholecystitis, Impaired neutrophil bactericidal activity, Nonsphero... |
OMIM:613470 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombo... |
OMIM:617591 |
Acitretin/Etretinate Embryopathy |
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Hypoplasia of the thymus |
ORPHA:40366 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Hypoplasia of the thymus, Jaundice, Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism |
OMIM:214110 |
Vici Syndrome |
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Leukopenia, T lymphocytopenia, Decreased T cell activation, Decreased circulating IgG2 level, Lym... |
OMIM:242840 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Patent ductus arteriosus, Decreased response to growth hormone stimulation test, T lymphocytopeni... |
OMIM:618223 |
Bare Lymphocyte Syndrome, Type Ii |
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Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormality, Cholangitis, Viral hepatitis, C... |
OMIM:209920 |
Microphthalmia, Syndromic 9 |
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Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen, Cryptorchidism |
OMIM:601186 |
Hennekam-Beemer Syndrome |
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Mastocytosis, Pneumonia |
ORPHA:2135 |
Hereditary Orotic Aciduria |
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Patent ductus arteriosus, Anemia, Impaired T cell function, Splenomegaly |
ORPHA:30 |
Common Variable Immunodeficiency |
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Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au... |
ORPHA:1572 |
Immunodeficiency 82 With Systemic Inflammation |
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Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circul... |
OMIM:619381 |
Isolated Anencephaly |
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Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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T lymphocytopenia, B lymphocytopenia, Hepatitis, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:391487 |
Schimke Immuno-Osseous Dysplasia |
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Anemia, Abnormality of thyroid physiology, Lymphopenia, Abnormal lymphocyte physiology, Impaired ... |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Iil |
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Patent ductus arteriosus, Cirrhosis, Pancytopenia, Impaired T cell function, Cholestasis, Hepatom... |
OMIM:614576 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... |
OMIM:618213 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Decreased serum estradiol, T lymphocytopenia, Neoplasm of the pancreas, Hepatic steatosis, Delaye... |
ORPHA:2959 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Type I diabetes mellitus, Autoimmune hem... |
ORPHA:436252 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Hypothyroidism, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neu... |
OMIM:607944 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Agammaglobulinemia, Lymphopenia, Abnormality of the pancreas |
ORPHA:935 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... |
OMIM:301074 |
Lethal Congenital Contracture Syndrome 10 |
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Hypoplasia of the thymus |
OMIM:617022 |
Onychotrichodysplasia And Neutropenia |
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Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Hepatitis, Lymphocytosis, Thyroiditis, Lymphadenopathy, Eosinophilia |
ORPHA:139402 |
Orotic Aciduria |
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Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio... |
OMIM:258900 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Thymoma, Asplenia, Cirrhosis, Hypothyroidism, Hyperthyroidism, Hepatitis, Exocrine pancreatic ins... |
OMIM:269200 |
Nijmegen Breakage Syndrome |
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T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc... |
OMIM:251260 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... |
OMIM:233710 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Wolcott-Rallison Syndrome |
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Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... |
ORPHA:1667 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Aplasia of the thymus |
ORPHA:3004 |
Digeorge Syndrome |
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Patent ductus arteriosus, Hypothyroidism, Anemia, Hypoplasia of the thymus, Hydrocele testis, Hep... |
OMIM:188400 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Hypogonadism, Decreased testicular size, Impaired T cell function, Hepatomegaly, Decreased serum ... |
OMIM:201100 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Asplenia, Hepatic fibrosis, Malformation of the hepatic ductal plate, Cholestasis, Hepatomegaly, ... |
OMIM:615415 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Patent ductus arterio... |
OMIM:208540 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus r... |
OMIM:233690 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphocytosis, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Decreased mean platel... |
OMIM:617718 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Female hypogonadism, Asplenia, Hypothyroidism, Decreased circulating aldosterone level, Chronic a... |
OMIM:240300 |
22Q11.2 Deletion Syndrome |
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Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Impaired T c... |
ORPHA:567 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Hypoplasia of the thymus, Accessory spleen, Adrenal hypoplasia |
OMIM:613177 |
Bloom Syndrome |
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Acute myeloid leukemia, Decreased circulating total IgM, Decreased circulating antibody level, Ab... |
ORPHA:125 |
Chediak-Higashi Syndrome |
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Leukopenia, Anemia, Recurrent bacterial skin infections, Periodontitis, Giant neutrophil granules... |
OMIM:214500 |
Treacher-Collins Syndrome |
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Patent ductus arteriosus, Hypoplasia of the thymus, Thyroid hypoplasia, Abnormality of the adrena... |
ORPHA:861 |
Cardiofacioneurodevelopmental Syndrome |
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Asplenia, Abdominal situs inversus, Cryptorchidism |
OMIM:619123 |
Eec Syndrome |
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Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Kikuchi-Fujimoto Disease |
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Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Lymphocytosis, ... |
ORPHA:50918 |
Ciliary Dyskinesia, Primary, 1 |
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Asplenia |
OMIM:244400 |
Proteus-Like Syndrome |
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Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
Primary Ciliary Dyskinesia |
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Asplenia, Polysplenia |
ORPHA:244 |
Granulomatous Disease, Chronic, X-Linked |
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Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Granuloma, Disc... |
OMIM:306400 |
Heterotaxy, Visceral, 2, Autosomal |
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Asplenia, Polysplenia, Abdominal situs inversus |
OMIM:605376 |
Right Atrial Isomerism |
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Asplenia, Polysplenia, Abdominal situs ambiguus |
OMIM:208530 |
Congenital Alveolar Capillary Dysplasia |
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Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas |
ORPHA:210122 |
Sweeney-Cox Syndrome |
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Patent ductus arteriosus, Asplenia, Bilateral cryptorchidism |
OMIM:617746 |
Primary Sjögren Syndrome |
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Leukopenia, Biliary cirrhosis, Decreased circulating antibody level, Increased circulating antibo... |
ORPHA:289390 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru... |
ORPHA:2968 |
Sarcoidosis, Susceptibility To, 1 |
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Increased circulating antibody level, Enlarged lacrimal glands, Abnormality of T cell physiology,... |
OMIM:181000 |
Mosaic Trisomy 9 |
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Patent ductus arteriosus, Asplenia, Abnormal liver lobulation, Cryptorchidism |
ORPHA:99776 |
Monosomy 22 |
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Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly |
ORPHA:96123 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Patent ductus arteriosus, Asplenia |
OMIM:619657 |
Microsporidiosis |
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Lymphadenitis, Brain abscess, Hepatitis, Peritonitis, Thyroiditis, Biliary tract abnormality, Cho... |
ORPHA:2552 |
Feingold Syndrome 1 |
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Patent ductus arteriosus, Asplenia, Polysplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
Truncus Arteriosus |
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Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Wiedemann-Rautenstrauch Syndrome |
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Increased serum testosterone level, Hypoplasia of the thymus, Cryptorchidism |
OMIM:264090 |
Sarcoidosis |
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Abnormal lymph node morphology, Leukopenia, Anemia, Hypothyroidism, Diabetes insipidus, Hemolytic... |
ORPHA:797 |
Meckel Syndrome |
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Pancreatic cysts, Asplenia, Pancreatic fibrosis, Accessory spleen, Cryptorchidism, Cystic liver d... |
ORPHA:564 |
Meckel Syndrome, Type 1 |
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Patent ductus arteriosus, Asplenia, Malformation of the hepatic ductal plate, Bile duct prolifera... |
OMIM:249000 |
Heterotaxy, Visceral, 1, X-Linked |
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Patent ductus arteriosus, Asplenia, Biliary atresia, Polysplenia, Hepatomegaly, Abdominal situs i... |
OMIM:306955 |
Tetraamelia Syndrome 1 |
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Asplenia, Adrenal gland agenesis |
OMIM:273395 |
Pseudoaminopterin Syndrome |
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Asplenia, Cryptorchidism |
ORPHA:221120 |
Heterotaxy, Visceral, 5, Autosomal |
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Abdominal situs inversus, Asplenia, Abdominal situs ambiguus, Patent ductus arteriosus |
OMIM:270100 |
Liver Disease, Severe Congenital |
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Portal inflammation, Hyperinsulinemic hypoglycemia, Hepatic steatosis, Hepatomegaly, Thrombocytop... |
OMIM:619991 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Patent ductus arteriosus, Asplenia, Pulmonary lymphangiectasia, Annular pancreas |
OMIM:265380 |
Proteus Syndrome |
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Diabetes insipidus, Macroorchidism, Neoplasm of the thymus, Enlarged polycystic ovaries, Testicul... |
ORPHA:744 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Diabetes mellitus, Parathyroid hypoplasia, Abnormality of T cell physiology, Hypoparathyroidism |
ORPHA:2237 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia, Cryptorchidism, Hydrocele testis, Decreased circulating antibody level |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Patent ductus arteriosus, Asplenia, Decreased circulating antibody level, Hydrocele testis, Crypt... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Patent ductus arteriosus, Asplenia, Decreased circulating antibody level, Hydrocele testis, Crypt... |
ORPHA:261552 |