Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Immunodeficiency 42 |
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Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
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Lymphadenopathy |
ORPHA:319600 |
Reticuloendotheliosis, X-Linked |
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Hepatosplenomegaly, Jaundice, Anemia, 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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Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Jaundice, Lymph node hypo... |
ORPHA:276 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... |
OMIM:300400 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... |
OMIM:613179 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
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 |
Immunodeficiency 9 |
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Failure to thrive, Hypoplasia of the thymus |
OMIM:612782 |
Kimura Disease |
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Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Stormorken Syndrome |
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Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Stormorken-Sjaastad-Langslet Syndrome |
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Asplenia, Anemia |
ORPHA:3204 |
Mirage Syndrome |
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Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anemia, Leukopenia, Adrenal i... |
OMIM:617053 |
Agammaglobulinemia, X-Linked |
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Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Isolated Anencephaly |
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Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Heme Oxygenase 1 Deficiency |
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Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Hypoglossia With Situs Inversus |
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Asplenia, Polysplenia |
OMIM:612776 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... |
OMIM:214110 |
Acitretin/Etretinate Embryopathy |
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Hypoplasia of the thymus |
ORPHA:40366 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocyto... |
OMIM:612541 |
Pearson Syndrome |
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Hypoparathyroidism, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Small for g... |
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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Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... |
ORPHA:84064 |
Ataxia-Telangiectasia |
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Failure to thrive, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lympho... |
OMIM:208900 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Microphthalmia, Syndromic 9 |
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Cryptorchidism, Hypoplastic spleen, Multilobulated spleen |
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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Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... |
OMIM:240300 |
Autoimmune Polyendocrinopathy Type 3 |
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Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Abnor... |
ORPHA:436252 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... |
ORPHA:83471 |
Autoimmune Polyendocrinopathy Type 4 |
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Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... |
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, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Treacher-Collins Syndrome |
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Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Failure to thrive, 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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Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Splenomegaly, Cryptorchidism, Ob... |
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 |
Pancreatoblastoma |
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Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Eec Syndrome |
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Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Digeorge Syndrome |
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Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocytopenia, Splenome... |
OMIM:188400 |
Proteus-Like Syndrome |
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Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
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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Small for gestational age, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone... |
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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Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Mosaic Trisomy 9 |
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Asplenia, Cryptorchidism, Abnormal liver lobulation |
ORPHA:99776 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Monosomy 22 |
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Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Truncus Arteriosus |
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Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Feingold Syndrome 1 |
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Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Asplenia |
OMIM:619657 |
Meckel Syndrome |
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Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure to thrive |
OMIM:306955 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Asplenia, Splenom... |
OMIM:249000 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
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 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Annular pancreas, Pulmonary lymphangiectasia |
OMIM:265380 |
Heterotaxy, Visceral, 5, Autosomal |
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Asplenia, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
Proteus Syndrome |
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Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia, Cryptorchidism, Failure to thrive, Hydrocele testis |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Asplenia, Cryptorchidism, Hydrocele testis, Decreased body weight |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Asplenia, Cryptorchidism, Failure to thrive, Hydrocele testis |
ORPHA:261552 |