Immunodeficiency 18 |
|
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope... |
OMIM:614493 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
Lymphoid System Deterioration, Progressive |
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Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Lymphopenia |
OMIM:300988 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:619802 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... |
OMIM:618987 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Microphthalmia |
OMIM:221950 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Tetralogy o... |
OMIM:612561 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300400 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Microphthalmia, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly |
ORPHA:858 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Increased circulating... |
ORPHA:277 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Immunodeficiency 102 |
|
Decreased circulating IgA level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... |
OMIM:617514 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... |
OMIM:600802 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Mmep Syndrome |
|
Ventricular septal defect, Microphthalmia |
ORPHA:3434 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microphthalmia |
ORPHA:2432 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Eosinophilia, Hepatospl... |
ORPHA:911 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Aplasia/Hypoplasia o... |
ORPHA:290 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia |
OMIM:615297 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... |
OMIM:618986 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Single ventricle, Anophthalmia, H... |
OMIM:601186 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, M... |
ORPHA:2470 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic... |
OMIM:612562 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Optic nerve hypoplasia, Ventricular septal defect, Dilated car... |
ORPHA:261250 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Abnormality of t... |
ORPHA:2169 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Abnormal heart morphology, Exocrine pancreatic insufficiency, ... |
ORPHA:811 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:301000 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis |
OMIM:611590 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Microcytic anemia, Microphthalmia, Hepatic st... |
OMIM:618805 |
Castleman Disease |
|
Decreased mean corpuscular volume, Restrictive cardiomyopathy, Follicular hyperplasia, Mediastina... |
ORPHA:160 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia |
ORPHA:3469 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... |
ORPHA:231226 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Trisomy 13 |
|
Atrial septal defect, Anophthalmia, Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia... |
ORPHA:3378 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... |
ORPHA:124 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... |
OMIM:616005 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Microphthalmia |
OMIM:609054 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... |
ORPHA:572 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... |
ORPHA:300298 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Hypoplasia of the iris, Lymphadenopathy |
OMIM:612783 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:276 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypo... |
ORPHA:86839 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center |
OMIM:608184 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Anophthalmia, Microphthalmia |
ORPHA:77298 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Splenogonadal fusion, Anophthalmia, Bil... |
OMIM:156810 |
Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Gracile Bone Dysplasia |
|
Aniridia, Hypoplastic spleen, Asplenia, Microphthalmia |
OMIM:602361 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... |
ORPHA:54251 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect, Hypoplastic spleen |
ORPHA:89844 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos |
OMIM:608763 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Leukemia, Microphthalmia |
OMIM:602501 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Lymph... |
ORPHA:508533 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... |
ORPHA:507 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... |
OMIM:150550 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:97290 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Microphthalmia, Cardiomegaly |
OMIM:618652 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... |
OMIM:614034 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes |
ORPHA:319487 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Congenital Fibrinogen Deficiency |
|
Left ventricular hypertrophy, Microphthalmia, Right ventricular hypertrophy, Splenic rupture |
ORPHA:335 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes |
ORPHA:33111 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Hydrolethalus |
|
Anophthalmia, Microphthalmia |
ORPHA:2189 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Trisomy 1Q |
|
Ventricular septal defect, Anophthalmia |
ORPHA:261344 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... |
OMIM:308240 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Meckel Syndrome |
|
Pancreatic fibrosis, Accessory spleen, Anophthalmia, Congenital hepatic fibrosis, Situs inversus ... |
ORPHA:564 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Ventricular septal defect, Noncompaction cardiomyopathy... |
OMIM:616651 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ... |
ORPHA:443811 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia |
ORPHA:90322 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Aniridia |
ORPHA:654 |
Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Hypoplasia of the iris, Thrombocytopenia, Lymphaden... |
ORPHA:169090 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... |
OMIM:301078 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia, Microphthalmia |
OMIM:619981 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Atrial septal defect, Abnormality of the spleen, Anophthalmia, Microphthalmia, Trun... |
ORPHA:2538 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... |
OMIM:613179 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Microphthalmia |
ORPHA:93267 |
Subaortic Stenosis-Short Stature Syndrome |
|
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Biliary trac... |
ORPHA:3191 |
Immunodeficiency 54 |
|
Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly |
OMIM:609981 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Pericarditis, Neutr... |
ORPHA:47612 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Refsum Disease |
|
Microphthalmia, Cardiomyopathy, Splenomegaly |
ORPHA:773 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Acute pancre... |
OMIM:618935 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Microphthalmia, Optic nerve hypoplasia, Ventricular septal defect, Patent f... |
OMIM:609053 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia |
ORPHA:261272 |
Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:899 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Fibular Hemimelia |
|
Thrombocytopenia, Anophthalmia, Abnormal heart morphology |
ORPHA:93323 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Bacterial endocarditis, Hepatomegaly, Atrial septal defect, At... |
ORPHA:97214 |
Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneu... |
ORPHA:83469 |
Roifman Syndrome |
|
Eosinophilia, Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly |
ORPHA:353298 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:391 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Abnormality of the spleen, Anophthalmia, Tetralogy of Fallot... |
ORPHA:2162 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Prolonged neonatal jaundic... |
OMIM:257200 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... |
ORPHA:829 |
Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Macular hypopl... |
OMIM:214500 |
Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Abnormality of the peritoneum |
ORPHA:26790 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... |
ORPHA:137902 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... |
OMIM:258900 |
Cockayne Syndrome Type 1 |
|
Anemia, Hepatomegaly, Anophthalmia |
ORPHA:90321 |
Macrophage Activation Syndrome |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... |
ORPHA:158061 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... |
ORPHA:39041 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Microphthalmia |
OMIM:619053 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Atrial septal defect, Atrioventricular canal defect, Tetralogy of Fallot, Ventricular septal defe... |
OMIM:600123 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:619183 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve aplasia |
OMIM:206900 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... |
OMIM:304790 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Frontonasal Dysplasia 1 |
|
Tetralogy of Fallot, Microphthalmia |
OMIM:136760 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, ... |
OMIM:619644 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Bone marrow hypoce... |
ORPHA:549 |
Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia,... |
OMIM:600901 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:619750 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... |
OMIM:616100 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... |
ORPHA:1451 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Anophthalmia, Aniridia |
ORPHA:1101 |
Cyclic Neutropenia |
|
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl... |
ORPHA:2686 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Dilated cardiomyopathy, Hep... |
OMIM:615895 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope... |
OMIM:618048 |
Scrub Typhus |
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Lymphadenopathy, Myocarditis, Splenomegaly |
ORPHA:83317 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
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Microphthalmia |
OMIM:619694 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... |
ORPHA:3261 |
Sézary Syndrome |
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Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3162 |
Mycosis Fungoides |
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Lymphadenopathy |
OMIM:254400 |
Temtamy Syndrome |
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Microphthalmia |
ORPHA:1777 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Hepatosplenomegaly, T lymphocytopenia, Panhypogammaglobulinemia, Abnormal natural killer cell cou... |
ORPHA:79124 |
Adams-Oliver Syndrome 2 |
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Microphthalmia |
OMIM:614219 |
Fanconi Anemia, Complementation Group A |
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Microphthalmia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia,... |
OMIM:227650 |
Lissencephaly 8 |
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Microphthalmia |
OMIM:617255 |
Fanconi Anemia, Complementation Group S |
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Anemia, Microphthalmia |
OMIM:617883 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Lymphadenopathy, Pericardial effusion |
ORPHA:411703 |
Q Fever |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis, Myocarditis, Cholecystitis, Thrombo... |
ORPHA:781 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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Microphthalmia |
ORPHA:1135 |
Acute Monoblastic/Monocytic Leukemia |
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Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Meckel Syndrome, Type 4 |
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Bile duct proliferation, Ventricular septal defect, Atrial septal defect, Microphthalmia |
OMIM:611134 |
Microphthalmia, Syndromic 11 |
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Microphthalmia |
OMIM:614402 |
Fanconi Anemia, Complementation Group C |
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Neutropenia, Microphthalmia, Thrombocytopenia, Ventricular septal defect, Pancytopenia, Bone marr... |
OMIM:227645 |
Congenital Disorder Of Glycosylation, Type Iq |
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Microcytic anemia, Microphthalmia |
OMIM:612379 |
Chromosome 17Q12 Duplication Syndrome |
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Atrial septal defect, Microphthalmia |
OMIM:614526 |
Fanconi Anemia, Complementation Group F |
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Atrial septal defect, Leukopenia, Microphthalmia, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:603467 |
Boutonneuse Fever |
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Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia |
ORPHA:83313 |
Hartsfield Syndrome |
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Microphthalmia |
ORPHA:2117 |
Adams-Oliver Syndrome |
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Abnormal pulmonary valve morphology, Cirrhosis, Leukopenia, Tetralogy of Fallot, Congenital hepat... |
ORPHA:974 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Mixed Connective Tissue Disease |
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Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myocarditis, Hemolytic anemi... |
ORPHA:809 |
Bare Lymphocyte Syndrome, Type Ii |
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Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia |
OMIM:209920 |
Joubert Syndrome 22 |
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Microphthalmia |
OMIM:615665 |
Developmental And Epileptic Encephalopathy 1 |
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Microphthalmia |
OMIM:308350 |
Hypocomplementemic Urticarial Vasculitis |
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Hepatomegaly, Splenomegaly, Abnormal heart valve morphology, Lymphadenopathy, Pericardial effusion |
ORPHA:36412 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:615877 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Pulmonic stenosis, Patent foramen ovale, Lens coloboma, Microphthalmia |
OMIM:618914 |
Diffuse Cutaneous Mastocytosis |
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Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... |
ORPHA:79456 |
Baraitser-Winter Syndrome 2 |
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Microphthalmia |
OMIM:614583 |
Klatskin Tumor |
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Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice |
ORPHA:99978 |
Sandestig-Stefanova Syndrome |
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Microphthalmia, Perimembranous ventricular septal defect, Muscular ventricular septal defect |
OMIM:618804 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Microphthalmia |
ORPHA:2547 |
Mosaic Trisomy 9 |
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Atrial septal defect, Abnormal liver lobulation, Endocardial fibroelastosis, Ventricular septal d... |
ORPHA:99776 |
Rere-Related Neurodevelopmental Syndrome |
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Ventricular septal defect, Microphthalmia, Abnormal heart morphology |
ORPHA:494344 |
Familial Hemophagocytic Lymphohistiocytosis |
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Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutro... |
ORPHA:540 |
Ataxia-Telangiectasia |
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Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ... |
OMIM:208900 |
Microphthalmia, Isolated, With Corectopia |
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Microphthalmia |
OMIM:156900 |
Stevenson-Carey Syndrome |
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Atrial septal defect, Microphthalmia |
OMIM:611961 |
Kaposi Sarcoma |
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Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver |
ORPHA:33276 |
Anterior Segment Dysgenesis 7 |
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Buphthalmos, Microphthalmia |
OMIM:269400 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Microphthalmia |
OMIM:614105 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Microphthalmia |
OMIM:601794 |
Anterior Segment Dysgenesis 5 |
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Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Histiocytosis, Hepatomegaly, Atrial septal defect, Splenomegaly, Cervical lymphadenopathy, Pulmon... |
OMIM:602782 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Microphthalmia With Linear Skin Defects Syndrome |
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Tricuspid valve prolapse, Abnormal cardiac septum morphology, Anophthalmia, Mitral valve prolapse... |
ORPHA:2556 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Microphthalmia |
ORPHA:363741 |
Frontonasal Dysplasia 3 |
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Microphthalmia |
OMIM:613456 |
Osteoporosis-Pseudoglioma Syndrome |
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Microphthalmia |
ORPHA:2788 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Leukemia, Atrial septal defect, Anophthalmia, Microphthalmia |
ORPHA:2526 |
Schimke Immuno-Osseous Dysplasia |
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Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Abnormal proportion of nai... |
ORPHA:1830 |
Microphthalmia, Syndromic 2 |
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Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Phthisis bulbi, Pulmo... |
OMIM:300166 |
Baraitser-Winter Syndrome 1 |
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Bicuspid aortic valve, Aortic valve stenosis, Microphthalmia |
OMIM:243310 |
Thymic Aplasia |
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Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
Kapur-Toriello Syndrome |
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Ventricular septal defect, Tetralogy of Fallot, Microphthalmia |
ORPHA:2328 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2250 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Lymphadenopathy |
OMIM:617591 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, P... |
OMIM:603553 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Thrombocytopenia, Generalized lymph... |
OMIM:614700 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Ventricular septal defect, Microphthalmia, Abnormal heart morphology |
ORPHA:404440 |
Fraser Syndrome 1 |
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Abnormality of the thymus, Bilateral microphthalmos, Anophthalmia, Abnormal heart morphology |
OMIM:219000 |
Middle Ear Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Vacterl With Hydrocephalus |
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Anophthalmia, Microphthalmia |
ORPHA:3412 |
Mirage Syndrome |
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Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia |
OMIM:617053 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Acute Interstitial Pneumonia |
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Reduced hematocrit, Lymphadenopathy, Pericardial effusion |
ORPHA:79126 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Anemia, Lymphadenopat... |
OMIM:267700 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Exocrine pancreatic insufficiency, Lymphopenia, Atrial septal defect, Microphthalmia, Severe B ly... |
OMIM:620005 |
Acquired Hypertrichosis Lanuginosa |
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Lymphadenopathy |
ORPHA:2221 |
Cerebrooculofacioskeletal Syndrome 1 |
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Microphthalmia |
OMIM:214150 |
Tangier Disease |
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Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Left ventricular hypertrophy, Anemia, ... |
ORPHA:31150 |
Kikuchi-Fujimoto Disease |
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Hepatomegaly, Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nod... |
ORPHA:50918 |
Acute Promyelocytic Leukemia |
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Neutropenia, Leukocytosis, Leukopenia, Thrombocytopenia, Pancytopenia, Anemia, Lymphadenopathy |
ORPHA:520 |
Seckel Syndrome 2 |
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Microphthalmia |
OMIM:606744 |
Mevalonic Aciduria |
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Fluctuating hepatomegaly, Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, ... |
OMIM:610377 |
Joubert Syndrome 37 |
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Hepatomegaly, Microphthalmia |
OMIM:619185 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Neutropenia, Microphthalmia, Thrombocytopenia, Pancytopenia, Bone marrow hypoce... |
OMIM:227646 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Optic nerve hypoplasia, Cardiomyopathy, Microphthalmia |
ORPHA:370959 |
Ring Chromosome 10 Syndrome |
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Microphthalmia |
ORPHA:1438 |
Pearson Syndrome |
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Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatic fi... |
ORPHA:699 |
Bresek Syndrome |
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Optic nerve hypoplasia, Microphthalmia |
ORPHA:85284 |
Encephalocraniocutaneous Lipomatosis |
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Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Hypoplasia of the i... |
OMIM:613001 |
Cat Eye Syndrome |
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Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Biliary atresia, Pulmonic stenos... |
OMIM:115470 |
Pediatric Systemic Lupus Erythematosus |
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Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Pe... |
ORPHA:93552 |
Squamous Cell Carcinoma Of The Anal Canal |
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Neoplasm of the liver, Lymphadenopathy |
ORPHA:424019 |
Nance-Horan Syndrome |
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Microphthalmia |
ORPHA:627 |
Charge Syndrome |
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Double outlet right ventricle, Lymphopenia, Secundum atrial septal defect, Atrial septal defect, ... |
OMIM:214800 |
3P25.3 Microdeletion Syndrome |
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Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Microphthalmia |
ORPHA:435638 |
Meckel Syndrome, Type 5 |
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Bile duct proliferation, Microphthalmia |
OMIM:611561 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Anemia, Lymphadenopathy |
ORPHA:85450 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Oculofaciocardiodental Syndrome |
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Abnormal cardiac septum morphology, Mitral valve prolapse, Microphthalmia |
ORPHA:2712 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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Ventricular septal defect, Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology |
ORPHA:369891 |
Cerebrooculofacioskeletal Syndrome 2 |
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Microphthalmia |
OMIM:610756 |
Fetal Alcohol Syndrome |
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Atrial septal defect, Microphthalmia |
ORPHA:1915 |
Autosomal Dominant Keratitis |
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Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... |
ORPHA:2334 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Abnormal cardiac septum morphology, Microphthalmia |
ORPHA:1352 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Lymphadenopathy |
ORPHA:69126 |
Ritscher-Schinzel Syndrome 3 |
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Microphthalmia, Atrioventricular canal defect |
OMIM:619135 |
Lig4 Syndrome |
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Hepatomegaly, Leukocytosis, Pancytopenia, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Joubert Syndrome 21 |
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Anophthalmia |
OMIM:615636 |
Cerebrooculonasal Syndrome |
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Optic nerve hypoplasia, Anophthalmia |
OMIM:605627 |
Trichothiodystrophy 3, Photosensitive |
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Microphthalmia, Lymphopenia, Neutropenia |
OMIM:616395 |
Joubert Syndrome 14 |
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Microphthalmia |
OMIM:614424 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Hepatomegaly, Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... |
OMIM:615688 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Splenomegaly, Impaired T cell function, Pa... |
OMIM:614576 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Splenomegaly, Lymphadenitis, Granulomatosis, Impaired oxidative burst, Lymphadenopa... |
OMIM:233710 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Microphthalmia |
OMIM:617306 |
Heart And Brain Malformation Syndrome |
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Ventricular septal defect, Microphthalmia |
OMIM:616920 |
Pseudotrisomy 13 Syndrome |
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Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... |
OMIM:264480 |
Vici Syndrome |
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Decreased circulating IgG level, Decreased T cell activation, Decreased proportion of CD4-positiv... |
OMIM:242840 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphocytosis, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy |
ORPHA:139402 |
Thyroid Lymphoma |
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Lymphadenopathy |
ORPHA:97285 |
Trichothiodystrophy 4, Nonphotosensitive |
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Ventricular septal defect, Microphthalmia |
OMIM:234050 |