Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Immunodeficiency 42 |
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Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia |
OMIM:183350 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... |
OMIM:300400 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Omenn Syndrome |
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Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... |
OMIM:603554 |
Immunodeficiency 76 |
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Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia |
OMIM:619164 |
Immunodeficiency 52 |
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Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... |
OMIM:617514 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... |
OMIM:615513 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... |
OMIM:242700 |
Isolated Anencephaly |
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Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
Immunodeficiency 9 |
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Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia |
OMIM:612782 |
Immunodeficiency 112 |
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Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor... |
OMIM:602450 |
Immunodeficiency 13 |
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B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
Cernunnos-Xlf Deficiency |
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Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Aplasia of the thymus |
ORPHA:3004 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... |
OMIM:243150 |
Immunodeficiency 68 |
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Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess |
OMIM:612260 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Acitretin/Etretinate Embryopathy |
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Hypoplasia of the thymus |
ORPHA:40366 |
Ataxia-Telangiectasia |
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Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Acute lymphobl... |
OMIM:208900 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Leukope... |
OMIM:612541 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... |
ORPHA:169154 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Cryptorchidism, Hypoplasia of the thymus |
OMIM:214110 |
Lethal Congenital Contracture Syndrome 10 |
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Hypoplasia of the thymus |
OMIM:617022 |
Wiskott-Aldrich Syndrome |
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Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... |
ORPHA:906 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim... |
ORPHA:436252 |
Syndromic Diarrhea |
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Hypoplasia of the thymus, Hypothyroidism, Increased mean platelet volume, Splenomegaly, Lymphopen... |
ORPHA:84064 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... |
OMIM:102700 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... |
ORPHA:83471 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Adrenal hypoplasia, Hypoplasia of the thymus, Accessory spleen |
OMIM:613177 |
Fraser Syndrome 2 |
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Hypoplasia of the thymus |
OMIM:617666 |
Treacher-Collins Syndrome |
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Abnormality of the adrenal glands, Cryptorchidism, Thyroid hypoplasia, Hypoplasia of the thymus |
ORPHA:861 |
Eec Syndrome |
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Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... |
ORPHA:1896 |
Proteus-Like Syndrome |
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Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... |
OMIM:600802 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Cholelithiasis, Abnormality of the tonsils, Hypoplasia of the thymus, Hypothy... |
ORPHA:567 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Decreased response to growth hormone stimulation test, Abnormal B cell morphology, Hypoparathyroi... |
OMIM:618223 |
Digeorge Syndrome |
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Anemia, Cholelithiasis, Hypoplasia of the thymus, Hypothyroidism, Parathyroid hypoplasia, Ovarian... |
OMIM:188400 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Monosomy 22 |
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Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus |
ORPHA:96123 |
Wiedemann-Rautenstrauch Syndrome |
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Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level |
OMIM:264090 |
Truncus Arteriosus |
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Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism... |
OMIM:620186 |
Proteus Syndrome |
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Ovarian neoplasm, Diabetes insipidus, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm ... |
ORPHA:744 |