Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Reticular Dysgenesis |
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Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
Immunodeficiency 42 |
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Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ... |
OMIM:602450 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
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Lymphadenopathy |
ORPHA:319600 |
Reticuloendotheliosis, X-Linked |
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Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
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Abnormal lymph node morphology |
OMIM:136580 |
Asplenia, Isolated Congenital |
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Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Failure to thrive in infancy, Decreased proportion of CD8-positive T cells, Decreased proportion ... |
OMIM:617241 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ... |
ORPHA:276 |
Severe Combined Immunodeficiency, X-Linked |
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Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Purine Nucleoside Phosphorylase Deficiency |
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Failure to thrive, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly,... |
OMIM:613179 |
Omenn Syndrome |
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Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Ly... |
OMIM:603554 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Laterality Defects, Autosomal Dominant |
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Asplenia |
OMIM:601086 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Asplenia |
OMIM:618948 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen |
ORPHA:89844 |
Kimura Disease |
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Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Stormorken Syndrome |
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Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
Stormorken-Sjaastad-Langslet Syndrome |
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Anemia, Asplenia |
ORPHA:3204 |
Mirage Syndrome |
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Lymphopenia, Leukopenia, Decreased testicular size, Adrenal insufficiency, Cryptorchidism, Decrea... |
OMIM:617053 |
Immunodeficiency 9 |
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Lymphopenia, Hypoplasia of the thymus, Failure to thrive, Abnormal natural killer cell count |
OMIM:612782 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocyt... |
OMIM:300755 |
Ciliary Dyskinesia, Primary, 53 |
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Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... |
OMIM:242700 |
Hypoglossia With Situs Inversus |
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Asplenia, Polysplenia |
OMIM:612776 |
Isolated Anencephaly |
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Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Heme Oxygenase 1 Deficiency |
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Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... |
OMIM:614034 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Hepatomegaly, Jaundice, Intrahepatic... |
OMIM:214110 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Ery... |
OMIM:612541 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Interface hepatitis, Autoimmune hemolytic anemia, Leukocytosis, Hypoplasia of the th... |
OMIM:243150 |
Acitretin/Etretinate Embryopathy |
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Hypoplasia of the thymus |
ORPHA:40366 |
Pearson Syndrome |
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Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm... |
ORPHA:699 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Aplasia of the thymus |
ORPHA:3004 |
Syndromic Diarrhea |
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Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Ataxia-Telangiectasia |
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Failure to thrive, Lymphopenia, Abnormal B cell count, Decreased proportion of CD4-positive helpe... |
OMIM:208900 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia... |
OMIM:269200 |
Microphthalmia, Syndromic 9 |
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Multilobulated spleen, Hypoplastic spleen, Cryptorchidism |
OMIM:601186 |
Lethal Congenital Contracture Syndrome 10 |
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Hypoplasia of the thymus |
OMIM:617022 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Cholelithiasis, Female hypogonadism, Male hypogonadism, Type I diabetes mellitus, Adrenal insuffi... |
OMIM:240300 |
Autoimmune Polyendocrinopathy Type 3 |
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Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... |
ORPHA:227982 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, ... |
ORPHA:83471 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t... |
ORPHA:436252 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Autoimmune Polyendocrinopathy Type 4 |
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Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... |
ORPHA:227990 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Adrenal cortical sclerosis, Severe B lymphocytopenia, Failure to thrive, Lymphopenia, Autoimmune ... |
OMIM:102700 |
Wiskott-Aldrich Syndrome |
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Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
Pancreatoblastoma |
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Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
Treacher-Collins Syndrome |
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Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, T... |
ORPHA:861 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
22Q11.2 Deletion Syndrome |
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Cholelithiasis, Failure to thrive, Obesity, Splenomegaly, Cryptorchidism, Hypoplasia of the thymu... |
ORPHA:567 |
Fraser Syndrome 2 |
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Hypoplasia of the thymus |
OMIM:617666 |
Heterotaxy, Visceral, 2, Autosomal |
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Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Digeorge Syndrome |
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Cholelithiasis, Parathyroid hypoplasia, Obesity, Hepatic steatosis, Splenomegaly, Ovarian cyst, H... |
OMIM:188400 |
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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Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries |
ORPHA:2969 |
Cardiofacioneurodevelopmental Syndrome |
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Asplenia, Cryptorchidism, Abdominal situs inversus |
OMIM:619123 |
Right Atrial Isomerism |
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Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Primary Ciliary Dyskinesia |
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Asplenia, Polysplenia |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 1 |
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Asplenia |
OMIM:244400 |
Wiedemann-Rautenstrauch Syndrome |
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Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level, ... |
OMIM:264090 |
Congenital Alveolar Capillary Dysplasia |
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Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Sweeney-Cox Syndrome |
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Asplenia, Bilateral cryptorchidism |
OMIM:617746 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... |
OMIM:618223 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Mosaic Trisomy 9 |
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Asplenia, Cryptorchidism, Abnormal liver lobulation |
ORPHA:99776 |
Monosomy 22 |
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Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia |
ORPHA:96123 |
Truncus Arteriosus |
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Hypoplasia of the thymus, Adrenocortical abnormality |
ORPHA:3384 |
Feingold Syndrome 1 |
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Accessory spleen, Asplenia, Annular pancreas, Polysplenia |
OMIM:164280 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Asplenia |
OMIM:619657 |
Heterotaxy, Visceral, 1, X-Linked |
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Failure to thrive, Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia |
OMIM:306955 |
Meckel Syndrome |
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Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pan... |
ORPHA:564 |
Meckel Syndrome, Type 1 |
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Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Cryptorchidism, Adrenal... |
OMIM:249000 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... |
OMIM:620186 |
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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Asplenia, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Annular pancreas, Pulmonary lymphangiectasia |
OMIM:265380 |
Proteus Syndrome |
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Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia, Hydrocele testis, Failure to thrive, Cryptorchidism |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Asplenia, Hydrocele testis, Cryptorchidism, Decreased body weight |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Asplenia, Hydrocele testis, Failure to thrive, Cryptorchidism |
ORPHA:261552 |