| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... |
OMIM:614493 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... |
OMIM:312863 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:617907 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... |
OMIM:611783 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... |
OMIM:615513 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... |
OMIM:617514 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... |
OMIM:619846 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T... |
ORPHA:169154 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ... |
OMIM:300400 |
| Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Failure to thrive, Increased hematocrit, Incre... |
OMIM:263400 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG |
OMIM:613495 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... |
OMIM:618987 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Immunodeficiency 116 |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... |
OMIM:615285 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... |
OMIM:620449 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... |
OMIM:607271 |
| Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity |
OMIM:618830 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... |
ORPHA:277 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Immunodeficiency 46 |
|
Anemia, Failure to thrive, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Abcd Syndrome |
|
Large for gestational age, Polycythemia |
OMIM:600501 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... |
OMIM:619313 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608631 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... |
ORPHA:444463 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... |
OMIM:618849 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:607373 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... |
OMIM:620632 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia |
ORPHA:318 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Lymphoc... |
OMIM:614470 |
| Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... |
OMIM:242700 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... |
OMIM:613493 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... |
OMIM:618986 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:607594 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... |
OMIM:601859 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor... |
ORPHA:911 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... |
OMIM:240500 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... |
OMIM:618108 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin... |
OMIM:608636 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Elevated circulating follicle stimu... |
OMIM:620501 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Reduced social reciprocity |
OMIM:606053 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... |
OMIM:301082 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp... |
OMIM:613101 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Reticular Dysgenesis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Weight loss, Anemia, Abnormality... |
ORPHA:33355 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... |
ORPHA:859 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, ... |
OMIM:603909 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:603552 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... |
OMIM:617006 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu... |
OMIM:615607 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... |
OMIM:608184 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia |
OMIM:604250 |
| Mast Cell Sarcoma |
|
Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:66661 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:224100 |
| Huntington Disease-Like 2 |
|
Memory impairment, Depression, Action tremor, Irritability, Weight loss, Dementia, Dystonia, Subc... |
OMIM:606438 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit... |
ORPHA:275864 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Immunodeficiency 27A |
|
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... |
OMIM:209950 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Irritability, Disinhibition, Polyphagia, Frontotemporal dementia, Emotion... |
OMIM:172700 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadism, Thrombocytop... |
ORPHA:848 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... |
OMIM:618969 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Dystonia, Motor stereotypy, Reduced social reciprocity |
OMIM:617820 |
| Foxg1 Syndrome |
|
Bruxism, Reduced social reciprocity, Stereotypical hand wringing, Agenesis of corpus callosum, Mo... |
ORPHA:561854 |
| Poems Syndrome |
|
Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuff... |
ORPHA:2905 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Amed Syndrome, Digenic |
|
Failure to thrive, Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia |
OMIM:619151 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis |
OMIM:618858 |
| Alpha-Heavy Chain Disease |
|
Anemia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis |
ORPHA:729 |
| Primary Dystonia, Dyt13 Type |
|
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... |
ORPHA:98807 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
| N-Acetylaspartate Deficiency |
|
Short attention span, Motor stereotypy, Self-mutilation, Decreased body weight |
OMIM:614063 |
| Livedoid Vasculopathy |
|
Graves disease, Polycythemia, Pancytopenia, Leukocytosis, Anemia, Diabetes mellitus |
ORPHA:542643 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... |
OMIM:613670 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Emotional lability, Disinhibition, Frontotemporal dementia, Dyspha... |
OMIM:612069 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Childhood Disintegrative Disorder |
|
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a... |
ORPHA:168782 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Huntington Disease-Like 2 |
|
Dementia, Dystonia, Memory impairment, Weight loss |
ORPHA:98934 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... |
OMIM:613011 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Frontotemporal dem... |
OMIM:600795 |
| Huntington Disease |
|
Mental deterioration, Depression, Memory impairment, Decreased body mass index, Oral-pharyngeal d... |
ORPHA:399 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... |
ORPHA:276 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Emotional lability, Agitation |
OMIM:617171 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Bruxism, Inappropriate laughter, Aggressive behavior, Dystonia, Motor stereotypy |
OMIM:619150 |
| Immunodeficiency 7 |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia |
OMIM:615387 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Increased ci... |
OMIM:618495 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Panhypogammagl... |
ORPHA:572 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... |
ORPHA:35078 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
| Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophili... |
OMIM:304790 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Failure to thrive, Monocytosis |
OMIM:615592 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... |
OMIM:606367 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:612653 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Amyotrophic Lateral Sclerosis |
|
Depression, Amyotrophic lateral sclerosis, Emotional lability, Fatigable weakness of respiratory ... |
ORPHA:803 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Abnormality of body mass index, Maternal diabetes, Elevated... |
OMIM:616329 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... |
OMIM:235700 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618709 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617475 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... |
OMIM:620430 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe... |
OMIM:250790 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age |
OMIM:619278 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age |
OMIM:616943 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis |
OMIM:617270 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level |
ORPHA:37748 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:308230 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... |
ORPHA:397596 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ... |
OMIM:301000 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Spinocerebellar Ataxia 48 |
|
Mental deterioration, Depression, Tremor, Irritability, Cachexia, Dystonia, Dysphagia |
OMIM:618093 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemoly... |
OMIM:611590 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... |
OMIM:616100 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Motor stereotypy, Dysphagia, Hand tremor |
OMIM:617862 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Juvenile Huntington Disease |
|
Depression, Irritability, Weight loss, Hyperactivity, Dementia, Dystonia |
ORPHA:248111 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Depression, Memory impairment, Emotional lability, Tremor, Irritability, Cognitive... |
ORPHA:683 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Down Syndrome |
|
Polycythemia, Obesity, Type II diabetes mellitus, Acute megakaryocytic leukemia, Delayed puberty,... |
ORPHA:870 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... |
OMIM:301078 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:182900 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Large for gestational age, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... |
ORPHA:507 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia |
OMIM:620365 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... |
ORPHA:331235 |
| Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... |
ORPHA:3392 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... |
OMIM:615122 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy |
OMIM:620065 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity, Short attention span, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... |
ORPHA:444002 |
| Idiopathic Achalasia |
|
Weight loss, Dysphagia |
ORPHA:930 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... |
ORPHA:169160 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... |
ORPHA:158057 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome... |
OMIM:616433 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Anorexia |
ORPHA:90081 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosplenomegaly, Eryt... |
ORPHA:231222 |
| Oculopharyngodistal Myopathy |
|
Weight loss, Fatigable weakness of bulbar muscles, Impaired oropharyngeal swallow response, Oral-... |
ORPHA:98897 |
| Von Hippel-Lindau Syndrome |
|
Pheochromocytoma, Paraganglioma, Polycythemia |
OMIM:193300 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis |
OMIM:611490 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... |
OMIM:612783 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Hsd10 Disease |
|
Short attention span, Tremor, Dysphagia, Choreoathetosis, Abnormal social behavior |
ORPHA:391417 |
| Chronic Hiccup |
|
Depression, Abnormal eating behavior, Weight loss |
ORPHA:396 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
| Fumarase Deficiency |
|
Polycythemia, Failure to thrive |
OMIM:606812 |
| Pelger-Huet Anomaly |
|
Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neut... |
OMIM:169400 |
| Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Aggressive behavior, Hyperactivity, Motor stereotypy, Small for gestational age |
OMIM:609425 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neut... |
OMIM:275350 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Paroxysmal bursts of l... |
OMIM:618718 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy |
ORPHA:545 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Dec... |
OMIM:266200 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Perry Syndrome |
|
Depression, Inappropriate behavior, Tremor, Disinhibition, Frontotemporal dementia, Weight loss, ... |
OMIM:168605 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Tremor |
OMIM:619470 |
| Harderoporphyria |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:618892 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Abnormal m... |
ORPHA:98848 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... |
OMIM:619774 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin, Failure to thrive |
ORPHA:98791 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Panhypogammaglobul... |
ORPHA:79124 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Immunodeficiency 114, Folate-Responsive |
|
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia |
OMIM:620603 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Overweight, Motor stereotypy, Excessive shyness |
ORPHA:280763 |
| Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia... |
OMIM:260400 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impaired oxidat... |
OMIM:618935 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ... |
OMIM:242860 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... |
ORPHA:83313 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy |
OMIM:617830 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment, Exaggerated startle... |
ORPHA:309246 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... |
ORPHA:54251 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231226 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Irritability |
OMIM:617393 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:152700 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Dela... |
ORPHA:100 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Perry Syndrome |
|
Dementia, Depression, Weight loss, Tremor |
ORPHA:178509 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... |
ORPHA:83471 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Anorexia |
ORPHA:2023 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor, Irritability, Aggressive behavio... |
ORPHA:3077 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Oral-pharyngeal dysphagia, Anorexia |
ORPHA:100083 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia |
OMIM:614171 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231214 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Leukopenia, Splenomegaly |
OMIM:620210 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Bruxism, Short attention span, Tremor, Decreased body weight, Aggressive behavior, Attention defi... |
OMIM:618342 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Failure to thrive, Neutropenia |
OMIM:250940 |
| Oromandibular Dystonia |
|
Blepharospasm, Depression, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Weig... |
ORPHA:93958 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Recurrent cutaneous absces... |
ORPHA:47 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615282 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... |
OMIM:300755 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... |
OMIM:619705 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Christianson Syndrome |
|
Inappropriate laughter, Cachexia, Dysphagia, Dystonia, Motor stereotypy |
ORPHA:85278 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Failure to thrive, Neutropenia |
OMIM:614857 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Overweight, Persistence of hemoglobin F |
OMIM:619769 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... |
ORPHA:449291 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Polycythemia, Adrenal pheochromocytoma, Pancreatic isle... |
ORPHA:892 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Neonatal Lupus Erythematosus |
|
