Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells, Disseminated cutaneous warts |
OMIM:619238 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased... |
OMIM:615897 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia, Congenital alopecia totalis |
ORPHA:169095 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... |
OMIM:615513 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy |
OMIM:601705 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased p... |
ORPHA:169154 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Ly... |
OMIM:619164 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Villous atrophy, Oligoarthritis, T lymphocytopenia, Decreased ci... |
OMIM:619510 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... |
ORPHA:911 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity, Melanin... |
OMIM:607624 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, Squamous cell carcinoma, Anal canal squamous carcinoma, T lympho... |
ORPHA:217390 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, Inflammatio... |
OMIM:618108 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia, Arthritis |
OMIM:601457 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... |
OMIM:243150 |
Immunodeficiency 70 |
|
Celiac disease, Decreased circulating antibody level, Decreased circulating total IgA, Decreased ... |
OMIM:618969 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:601859 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... |
OMIM:618986 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy... |
OMIM:603554 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... |
OMIM:612260 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... |
OMIM:602450 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Abnormal hair morphology... |
OMIM:208900 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Dec... |
OMIM:617006 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... |
OMIM:614172 |
Selective Igm Deficiency |
|
Lymphadenitis, Paraproteinemia, Decreased proportion of transitional B cells, Thyroid carcinoma, ... |
ORPHA:331235 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm... |
OMIM:613011 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:603909 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat... |
OMIM:616005 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Hemato... |
ORPHA:217260 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Malabsorption, Abnormal hair morphology, Intestinal lymphangiect... |
OMIM:152800 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neopla... |
OMIM:240500 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Lymphoprolif... |
ORPHA:276 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Burkitt Lymphoma |
|
Intestinal obstruction, Abnormality of the spleen, Abnormal lymph node morphology, Neoplasm of th... |
ORPHA:543 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia, Cutaneous anergy |
OMIM:114580 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Premature graying of hair, Na... |
OMIM:619767 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, High pala... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever... |
OMIM:102700 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Myelodysplasia, Cryptorchidism, Anemia, Premature graying of hair, Squamous cell carc... |
OMIM:620365 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Protruding tongue, Malabsorption, T lymphocytopenia, Increased circulating IgM level, Macroglossi... |
OMIM:242860 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Squamo... |
OMIM:243700 |
Immunodeficiency 40 |
|
Rectal fistula, Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell prolif... |
OMIM:616433 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Craniosynostosis, Limited elbow movement, Decreased proportion o... |
ORPHA:508533 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Burkitt lymphoma, Increased proportion of exhausted T cells, Disseminated cutaneous warts |
OMIM:618307 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell coun... |
ORPHA:3261 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Villous atrophy, Gastritis, Increased mean platelet volum... |
ORPHA:84064 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:66628 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... |
ORPHA:906 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Hypothyroidism, Thyr... |
ORPHA:83471 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... |
ORPHA:179494 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thro... |
OMIM:616100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Acitretin/Etretinate Embryopathy |
|
High palate, Hypoplasia of the thymus, Median cleft palate |
ORPHA:40366 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Hypergonadotropic hy... |
ORPHA:2959 |
Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, Lymph node hypoplasia, B ... |
OMIM:300755 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Villous atrophy, ... |
ORPHA:391487 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cryptorchidism, Cleft palate, Hypoplasia of the thymus, Camptodactyly, Joint contracture of the hand |
OMIM:214110 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
Roifman Syndrome |
|
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Delayed proximal femoral epiphyseal... |
ORPHA:353298 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Intestinal atresia, Rectal a... |
ORPHA:436252 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus |
OMIM:617022 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Immunodeficiency 22 |
|
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... |
OMIM:615758 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Osteomalacia,... |
OMIM:619381 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Vici Syndrome |
|
Decreased circulating IgG level, Hypopigmentation of hair, Albinism, Decreased circulating IgG2 l... |
OMIM:242840 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, White hair, Fine hair, Reduced bone mineral density, Agamma... |
ORPHA:935 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Osteopenia, Joint laxity, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse... |
OMIM:613177 |
Treacher-Collins Syndrome |
|
Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Low anterior hairline, Tracheoesophag... |
ORPHA:861 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Anal stenosis, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Medul... |
OMIM:251260 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Agammaglobulinemia, Colitis, Neutropenia, Cutaneous anergy, Panhy... |
OMIM:209920 |
Schimke Immuno-Osseous Dysplasia |
|
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Impaired T cell function, Abnormality of thyr... |
ORPHA:1830 |
Carney Complex |
|
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, ... |
ORPHA:1359 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... |
ORPHA:2969 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Hypothyroidism, Lymphadenopathy, T lymphocytopenia, Sclerosis of sku... |
OMIM:607944 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, ... |
ORPHA:96123 |
Bloom Syndrome |
|
Neoplasm, Neoplasm of the breast, Stomach cancer, Decreased circulating IgG level, Decreased prop... |
ORPHA:125 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset di... |
ORPHA:221139 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Low anterior hairline, Hypoplasia of the thymus, Anal atr... |
OMIM:617666 |
Eec Syndrome |
|
Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Lymphom... |
ORPHA:1896 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Anal atresia, Hyperthyroidism, Aganglionic megacolon, Impaired T cell functio... |
ORPHA:567 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Carney Triad |
|
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Adrenal overactivity, Leiomyosarcoma,... |
ORPHA:139411 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
Digeorge Syndrome |
|
Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... |
OMIM:188400 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration,... |
OMIM:201100 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Congenital contracture |
OMIM:619036 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Splenomegaly, Medias... |
OMIM:181000 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:264090 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Colitis, Esophagitis... |
OMIM:618131 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone l... |
ORPHA:97685 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... |
OMIM:620186 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Proteus Syndrome |
|
Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, Capillary hemangioma, G... |
ORPHA:744 |
Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Lymphoma, ... |
ORPHA:221 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma |
OMIM:606764 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submu... |
OMIM:192430 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma |
ORPHA:97286 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Cleft palate, Parathyroi... |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
|
Esophageal ulceration, Diabetes mellitus, Impaired T cell function, Delayed puberty |
OMIM:176690 |