Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Immunodeficiency 42 |
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Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... |
OMIM:602450 |
Heme Oxygenase 1 Deficiency |
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Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circu... |
OMIM:614034 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
Asplenia, Isolated Congenital |
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Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Recurrent otitis media, Asplenia |
OMIM:618948 |
Stormorken Syndrome |
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Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen |
ORPHA:89844 |
Mirage Syndrome |
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Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocytopenia, Cryptorchidis... |
OMIM:617053 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Immunodeficiency 9 |
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Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:612782 |
Ataxia-Telangiectasia |
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Decreased circulating IgG level, Sinusitis, Diabetes mellitus, Female hypogonadism, Elevated circ... |
OMIM:208900 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... |
OMIM:102700 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Autoimmune t... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash... |
ORPHA:227982 |
Laterality Defects, Autosomal Dominant |
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Asplenia |
OMIM:601086 |
Syndromic Diarrhea |
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Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Hypothyroidism, Abnormalit... |
ORPHA:84064 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Hypocalcemic ... |
ORPHA:83471 |
Pearson Syndrome |
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Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Stormorken-Sjaastad-Langslet Syndrome |
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Asplenia, Anemia |
ORPHA:3204 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... |
OMIM:214110 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ... |
OMIM:240300 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... |
OMIM:269200 |
Hypoglossia With Situs Inversus |
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Asplenia, Polysplenia |
OMIM:612776 |
Acitretin/Etretinate Embryopathy |
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Hypoplasia of the thymus |
ORPHA:40366 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Asplenia, Bronchiectasis, Chronic rhinitis, Chronic otitis media, Chronic sinusitis |
OMIM:244400 |
Isolated Anencephaly |
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Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I... |
ORPHA:436252 |
Microphthalmia, Syndromic 9 |
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Cryptorchidism, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Digeorge Syndrome |
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Acne, Impaired T cell function, Parathyroid agenesis, Seborrheic dermatitis, Decreased circulatin... |
OMIM:188400 |
Primary Ciliary Dyskinesia |
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Asplenia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Polysplenia, Chronic otitis m... |
ORPHA:244 |
Lethal Congenital Contracture Syndrome 10 |
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Hypoplasia of the thymus |
OMIM:617022 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... |
ORPHA:542323 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Hyperthyroidism, Acne, Abnormality of the tonsils, Impaired T cell function, ... |
ORPHA:567 |
Eec Syndrome |
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Decreased response to growth hormone stimulation test, Keratitis, Inflammatory abnormality of the... |
ORPHA:1896 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Recurrent pneumonia, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
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Aplasia of the thymus |
ORPHA:3004 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Treacher-Collins Syndrome |
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Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia |
ORPHA:861 |
Fraser Syndrome 2 |
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Hypoplasia of the thymus |
OMIM:617666 |
Proteus-Like Syndrome |
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Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland |
ORPHA:2969 |
Heterotaxy, Visceral, 2, Autosomal |
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Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Right Atrial Isomerism |
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Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Cardiofacioneurodevelopmental Syndrome |
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Asplenia, Cryptorchidism, Abdominal situs inversus |
OMIM:619123 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Pneumonia, Cryptorchidism, Hypoplasia of the thymus, Increased serum testos... |
OMIM:264090 |
Monosomy 22 |
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Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Seborrheic dermatitis |
ORPHA:96123 |
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 |
Sweeney-Cox Syndrome |
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Asplenia, Bilateral cryptorchidism |
OMIM:617746 |
Mosaic Trisomy 9 |
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Asplenia, Cryptorchidism, Abnormal liver lobulation |
ORPHA:99776 |
Congenital Alveolar Capillary Dysplasia |
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Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Asplenia, Splenom... |
OMIM:249000 |
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 |
Meckel Syndrome |
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Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
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 |
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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Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia |
OMIM:306955 |
Pseudoaminopterin Syndrome |
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Asplenia, Cryptorchidism |
ORPHA:221120 |
Tetraamelia Syndrome 1 |
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Asplenia, Adrenal gland agenesis |
OMIM:273395 |
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, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... |
ORPHA:744 |
Mowat-Wilson Syndrome |
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Asplenia, Cryptorchidism, Enterocolitis, Decreased circulating antibody level, Hydrocele testis, ... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Recurrent otiti... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Recurrent otiti... |
ORPHA:261552 |