| 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 |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:398124 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Splenomegaly, Lymphadenopathy |
OMIM:611762 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b... |
OMIM:194380 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... |
OMIM:208900 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... |
OMIM:617099 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Propionic Acidemia |
|
Failure to thrive, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy |
OMIM:620514 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia |
ORPHA:309854 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Weight loss, Leu... |
ORPHA:99867 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi... |
ORPHA:352490 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Progressive neurologic deterioration, Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Agenesis of corpus callosum, Decreased body weight, Attention deficit hy... |
OMIM:617695 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci... |
ORPHA:101039 |
| Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi... |
OMIM:614700 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47612 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Dystonia, Motor stereotypy, Choreoathetosis |
OMIM:618218 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:600901 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Failure to thrive in infancy, Inappropriate laughter, Stereotypical hand wringing, Hyperactivity,... |
OMIM:614104 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... |
ORPHA:2686 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... |
ORPHA:436159 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... |
ORPHA:760 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... |
ORPHA:158061 |
| Huntington Disease-Like 1 |
|
Depression, Memory impairment, Weight loss, Cognitive impairment, Dementia, Restlessness |
ORPHA:157941 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly, Lymphadenopathy |
OMIM:609981 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Congenital Toxoplasmosis |
|
Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:858 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... |
ORPHA:288 |
| Sézary Syndrome |
|
Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy |
ORPHA:3162 |
| Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis |
OMIM:232800 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:613989 |
| Lopes-Maciel-Rodan Syndrome |
|
Bruxism, Tremor, Dysphagia, Dystonia, Motor stereotypy, Agitation |
OMIM:617435 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Diamond-Blackfan Anemia 11 |
|
Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a... |
OMIM:608049 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:227650 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Abnorma... |
ORPHA:381 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Arm dystonia, Amyotrophic lateral sclerosis, Retrocollis, Axial dystonia, Opisthotonus, Cachexia,... |
ORPHA:300605 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Throm... |
ORPHA:100026 |
| Barth Syndrome |
|
Failure to thrive, Cyclic neutropenia, Hypochromic microcytic anemia, Neutropenia, Granulocytopenia |
OMIM:302060 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Opisthotonus, Attention deficit hyperactivity disorder, Weight loss, Cognit... |
ORPHA:216866 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presenc... |
OMIM:613179 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lymphopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:617591 |
| Congenital Enterovirus Infection |
|
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:292 |
| Thymic Carcinoma |
|
Weight loss, Fatigable weakness |
ORPHA:99868 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:619690 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Depression, Failure to thrive, Short attention span, Aggressive behavior, Attention deficit hyper... |
OMIM:620242 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Lymphopenia, Leukopenia, Thrombocytosis, Anemia |
OMIM:615934 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... |
ORPHA:822 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Lymphopenia, Pancytopenia, Abnorm... |
OMIM:242900 |
| Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Central Diabetes Insipidus |
|
Depression, Polydipsia, Failure to thrive, Weight loss, Anorexia |
ORPHA:178029 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Emotional lability, Dysphagia, Cognitive impairment, Motor deterioration, Dementia, P... |
ORPHA:79264 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Confusion, Emotional lability, Cognitive impairment, Delirium, Motor stereotyp... |
ORPHA:927 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Decreased body weight, Lymp... |
ORPHA:1667 |
| Mirage Syndrome |
|
Lymphopenia, Decreased testicular size, Leukopenia, Cryptorchidism, Thrombocytopenia, Anemia, Hyp... |
OMIM:617053 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... |
ORPHA:66628 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Sma... |
OMIM:277380 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Failure to thrive, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Irritability |
ORPHA:30925 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Recurrent hand flapping, Emotional lability, Short attention span, Aggressive behavior, Attention... |
OMIM:619580 |
| Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic anemia, Thrombocytosis, Aspl... |
OMIM:614034 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:508542 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Decreased circulating osteocalcin level, Delayed puberty, Abnorm... |
ORPHA:330015 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
| Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Sneddon Syndrome |
|
Lymphopenia |
OMIM:182410 |
| Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Leukopenia, Childhood-onset truncal obesit... |
OMIM:216550 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ... |
ORPHA:179494 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy |
OMIM:619750 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... |
OMIM:617052 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Stereotypical hand wringing, Compulsive behaviors, Dystonia, Motor stere... |
OMIM:618917 |
| Immunodeficiency 9 |
|
Lymphopenia, Hypoplasia of the thymus, Failure to thrive, Abnormal natural killer cell count |
OMIM:612782 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Dysphagia |
ORPHA:2198 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... |
OMIM:214500 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... |
OMIM:610042 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Anemia, Decreased p... |
ORPHA:90362 |
| Galloway-Mowat Syndrome 6 |
|
Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight |
OMIM:618347 |
| Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy |
ORPHA:353298 |
| Gerstmann-Straussler Disease |
|
Memory impairment, Depression, Emotional lability, Tremor, Aggressive behavior, Weight loss, Deme... |
OMIM:137440 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Failure to thrive, Neutropenia |
ORPHA:79284 |
| Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Failure to thrive, Sideroblastic anemia, Pancytopenia, Refractory sider... |
OMIM:557000 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy |
ORPHA:391 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenome... |
OMIM:102700 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Progressive psychomotor deterioration, Irritability, Weight loss, Motor deterioration, Dementia |
ORPHA:3208 |
| Young-Onset Parkinson Disease |
|
Depression, Frontal lobe dementia, Restless legs, Agitation, Short attention span, Reduced social... |
ORPHA:2828 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphopenia, Abnormality of thyroid ... |
ORPHA:1830 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Memory impairment, Confusion, Disinhibition, Dementia, Semantic dementia, Abnormal social behavio... |
ORPHA:1020 |
| Leukocyte Adhesion Deficiency |
|
Abnormality of neutrophil physiology, Polycythemia, Leukocytosis, Impaired neutrophil chemotaxis,... |
ORPHA:2968 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Hypopit... |
ORPHA:811 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasi... |
OMIM:612541 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Ogden Syndrome |
|
Iron deficiency anemia, Maternal diabetes, Polycythemia, Thrombocytopenia |
OMIM:300855 |
| Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Oculogyric crisis, Lateral ventricle dilatation, Oral-pharyngeal dysphag... |
ORPHA:208447 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Failure to thrive, Neutropenia |
OMIM:616395 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:274150 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:227645 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Failure to thrive, Neutropenia |
OMIM:617941 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
| Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Lymphadenopathy, Anemia |
ORPHA:39041 |
| Hereditary Late-Onset Parkinson Disease |
|
Mental deterioration, Depression, Resting tremor, Low frustration tolerance, Agitation, Weight lo... |
ORPHA:411602 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Neutropenia |
ORPHA:33110 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:613990 |
| Shukla-Vernon Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity |
OMIM:301029 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Neutropenia |
OMIM:618253 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter |
ORPHA:228402 |
| Choreoacanthocytosis |
|
Mental deterioration, Lateral ventricle dilatation, Resting tremor, Limb dystonia, Emotional labi... |
ORPHA:2388 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Xq28 (MECP2) duplication |
|
Motor stereotypy, Depression, Dysphagia, Failure to thrive |
DECIPHER:45 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:620292 |
| Cri-Du-Chat Syndrome |
|
Oppositional defiant disorder, Short attention span, Self-mutilation, Overfriendliness, Aggressiv... |
OMIM:123450 |
| Riboflavin Transporter Deficiency |
|
Aggressive behavior, Cachexia, Dysphagia, Tremor |
ORPHA:97229 |
| Common Variable Immunodeficiency |
|
Failure to thrive in infancy, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:1572 |
| Beckwith-Wiedemann Syndrome |
|
Polycythemia, Adrenocortical cytomegaly, Obesity, Large for gestational age, Splenomegaly, Pseudo... |
ORPHA:116 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Failure to thrive, Neutropenia, B lymphocytopenia |
OMIM:601495 |
| Graves Disease |
|
Polyphagia, Weight loss, Hyperactivity, Irritability |
OMIM:275000 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618906 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia |
ORPHA:935 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... |
OMIM:618278 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... |
OMIM:243150 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Reduced social reciprocity, Attention deficit hyperactivity disorder,... |
ORPHA:261197 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosis |
OMIM:619644 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Attention deficit hyperactivity disorder, Motor tics, Dystonia, Motor stereotypy,... |
OMIM:619725 |
| Lamb-Shaffer Syndrome |
|
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Abnormal social behavior |
ORPHA:530983 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Reduced n... |
ORPHA:540 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... |
OMIM:600430 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hypothyroidism, Neutropenia |
OMIM:251900 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Bone-marrow foam cells |
OMIM:257200 |
| 48,Xxyy Syndrome |
|
Depression, Obesity, Tremor, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:10 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Decreased body weight, Thrombocytopenia, Neutropenia, Anemia, Small f... |
ORPHA:90051 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Tremor, Self-mutilation, Overweight, Motor stereotypy |
ORPHA:457240 |
| Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Motor stereotypy, Choreoathetosis |
OMIM:619317 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul... |
OMIM:618825 |
| Vici Syndrome |
|
Cutaneous anergy, Decreased circulating IgG level, Lymphopenia, Leukopenia, Decreased proportion ... |
OMIM:242840 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:457077 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Fatigable weakness, Fatigable weakness of neck muscles |
ORPHA:42 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Anemia, Lymphadenop... |
OMIM:603553 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... |
OMIM:617600 |
| Smith-Magenis Syndrome |
|
Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hyperactivity, Self huggi... |
OMIM:182290 |
| Desmoplastic Small Round Cell Tumor |
|
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:83469 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dementia, Cachexia, Weight loss, Dysphagia |
ORPHA:298 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... |
OMIM:243700 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Macrocephaly/Autism Syndrome |
|
Lymphopenia, Obesity, Large for gestational age, Splenomegaly |
OMIM:605309 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Neutropenia, B lymphocytopenia |
OMIM:301081 |
| Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Small for gestational age, Neutropenia |
ORPHA:391673 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Oral-pharyngeal dysphagia, Hyperactivity, Motor stereotypy, Small for gestatio... |
OMIM:610883 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Failure to thrive, Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivi... |
OMIM:300352 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... |
OMIM:260920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Self-injurious behavior, Failure to thrive, Recurrent hand flapping, Aggressive behavior, Attenti... |
OMIM:300986 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Failure to thrive, Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Reduced... |
OMIM:300912 |
| Ebola Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:319218 |
| Rett Syndrome |
|
Bruxism, Stereotypical hand wringing, Cachexia, Motor deterioration, Dystonia |
OMIM:312750 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia |
ORPHA:391307 |
| Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Abnormal granulo... |
ORPHA:1451 |
| Roifman Syndrome |
|
Eosinophilia, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
| Mhc Class Ii Deficiency 1 |
|
Failure to thrive, Neutropenia |
OMIM:209920 |
| Papa Syndrome |
|
Lymphadenopathy, Increased circulating antibody level |
ORPHA:69126 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Type I diabetes mellitus, Failure to thrive in infancy, Autoimmune hemolytic anemia, Splenomegaly... |
ORPHA:37042 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti... |
OMIM:608643 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Depression, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Cognitive impairment, ... |
ORPHA:98784 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Motor stereotypy |
OMIM:615637 |
| Alexander Disease Type I |
|
Cachexia, Dysphagia, Failure to thrive |
ORPHA:363717 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the... |
OMIM:618223 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... |
ORPHA:313892 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Motor stereotypy, Tremor, Agenesis of corpus callosum |
ORPHA:238750 |
| Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Weight loss, Hypothyroidism, Impaired lym... |
OMIM:614162 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Obsessive-compulsive trait, Low frustration tolerance, Aggressive behavior,... |
ORPHA:168491 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Short attention span, Emotional lability, Reduced social reciprocit... |
ORPHA:300570 |
| Radio-Tartaglia Syndrome |
|
Obesity, Tremor, Agenesis of corpus callosum, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:619312 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... |
OMIM:619381 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Neutropenia, Decreased bod... |
OMIM:609053 |
| Coffin-Siris Syndrome 6 |
|
Tics, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617808 |
| Castleman Disease |
|
Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, D... |
ORPHA:160 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Myeloproliferative disorder, Lymphadenopathy, Lymphocytosis |
ORPHA:79456 |
| Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior |
ORPHA:64280 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Low frustration tolerance, Overfriend... |
OMIM:619293 |
| Rett Syndrome |
|
Failure to thrive, Bruxism, Stereotypical hand wringing, Dystonia, Progressive language deteriora... |
ORPHA:778 |
| Reni Syndrome |
|
Hypogonadism, Lymphopenia, Adrenal insufficiency, Hypothyroidism |
OMIM:617575 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation |
ORPHA:100924 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Tremor |
OMIM:619092 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Lymphadenopathy, Thrombocytopenia, An... |
OMIM:610377 |
| Rett Syndrome, Congenital Variant |
|
Bruxism, Reduced social reciprocity, Irritability, Tongue thrusting, Dystonia, Athetosis, Motor s... |
OMIM:613454 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Motor stereotypy, Lateral ventricle dilatation |
OMIM:613443 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Memory impairment, Reduced social reciprocity, Diminished ability to concentrate, Attention defic... |
OMIM:615656 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Failure to thrive, Exaggerated startle response, Irritability |
OMIM:617864 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Depression, Hostility, Bruxism, Decreased body weight, Repetitive compulsive behavior, Dysphagia,... |
OMIM:300260 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233710 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:93552 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617303 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Lymphadenop... |
ORPHA:829 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Bruxism, Paroxysmal dystonia, Dystonia, Motor stereotypy |
OMIM:618004 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Hypothyroidism, Truncal obesity, Anemia, Diabetes mellitus |
OMIM:616541 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Anemia, Brain abscess, Polycythemia |
OMIM:600376 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Obsessive-compulsive trait, Irritability, Hyperactivity, Pica, Overweight, Motor stereotypy, Smal... |
OMIM:617796 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyperactivity disorder, D... |
OMIM:617061 |
| Generalized Pustular Psoriasis |
|
Lymphopenia, Obesity, Overweight, Leukocytosis |
ORPHA:247353 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Agenesis of corpus callosum, Compulsive behaviors, Motor stereotypy, Sma... |
OMIM:613174 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Generalized dystonia, Tremor, Oral aversion, Weight loss, Cognitive impairment... |
ORPHA:354 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Failure to thrive, Neutropenia |
OMIM:618005 |
| Metachromatic Leukodystrophy, Adult Form |
|
Memory impairment, Depression, Progressive psychomotor deterioration, Short attention span, Emoti... |
ORPHA:309271 |
| Wilson Disease |
|
Depression, Failure to thrive, Increased body weight, Aggressive behavior, Weight loss, Hypersexu... |
ORPHA:905 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... |
OMIM:233690 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Revesz Syndrome |
|
Macrocytic anemia, Aplastic anemia, Neutropenia |
OMIM:268130 |
| 48,Xxxy Syndrome |
|
Obesity, Tremor, Irritability, Attention deficit hyperactivity disorder, Abnormal aggressive, imp... |
ORPHA:96263 |
| Avian Influenza |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:454836 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Progressive psychomotor deterioration, Short attention span, Emotional lability, Intention tremor... |
ORPHA:309263 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy |
OMIM:618430 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Lymphopenia, Pancytopenia, Leukopenia, Obesity, Thrombocytopenia, Reduced circulating growth horm... |
OMIM:620654 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy |
ORPHA:169090 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lateral ventricle dilatation, Obesity, Short attention span, Tremor, Stereotypical hand wringing,... |
OMIM:619229 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:267700 |
| Fatal Familial Insomnia |
|
Dementia, Weight loss, Dysphagia |
OMIM:600072 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis... |
OMIM:615688 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:227646 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, Hepatic steatosis, T lymphocytopenia, Neoplasm of the pancreas |
ORPHA:2959 |
| Pearson Syndrome |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Exocrine panc... |
ORPHA:699 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Head-banging, Frequent temper tantrums, Dysplastic corpus callosum, Attention deficit hyperactivi... |
OMIM:619103 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting |
ORPHA:3306 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
| Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy |
ORPHA:99812 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Takayasu Arteritis |
|
Weight loss, Anorexia |
ORPHA:3287 |
| Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Lateral ventricle dilatation, Motor stereotypy, Hyperactivity |
OMIM:617751 |
| Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Weight loss, Neutropenia |
ORPHA:537 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Inappropriate laughter, Motor stereotypy, Failure to thrive, Agenesis of corpus callosum |
OMIM:615802 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss, Irritability, Anorexia |
ORPHA:79242 |
| Multiple Myeloma |
|
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... |
ORPHA:29073 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Primary h... |
ORPHA:391487 |
| Ritscher-Schinzel Syndrome 4 |
|
Agenesis of corpus callosum, Aggressive behavior, Dysphagia, Athetosis, Motor stereotypy, Impulsi... |
OMIM:619435 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Lymphadenopathy |
ORPHA:549 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Anemia, Brain abscess, Polycythemia |
OMIM:187300 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Failure to thrive, Neutropenia |
OMIM:618460 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Cachexia, Hyperactivity, Dystonia, Athetosis |
ORPHA:52503 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Anorexia |
ORPHA:65682 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618354 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior, Motor stereotypy, Imp... |
OMIM:618914 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Self-injurious behavior, Failure to thrive, Tremor, Aggressive behavior, Attention deficit hypera... |
OMIM:620494 |
| Infantile Krabbe Disease |
|
Mental deterioration, Failure to thrive, Irritability, Opisthotonus, Cachexia, Progressive neurol... |
ORPHA:206436 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Failure to thrive, Obesity, Overfriendliness, Irritability, Aggressive b... |
OMIM:616364 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:411986 |
| Coffin-Siris Syndrome 7 |
|
Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity |
OMIM:618027 |
| Tay-Sachs Disease |
|
Memory impairment, Depression, Laryngeal dystonia, Short attention span, Tremor, Dysphagia, Exagg... |
ORPHA:845 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Self-mutilation, Tremor, Aggressive behavior, Attention deficit hyperactivity ... |
ORPHA:476126 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia |
ORPHA:90038 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention deficit hyperactivity d... |
ORPHA:819 |
| Flynn-Aird Syndrome |
|
Dementia, Cachexia |
ORPHA:2047 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Depression, Weight loss, Cognitive impairment, Dementia, Intention tremor |
OMIM:301310 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Head-banging, Lateral ventricle dilatation, Failure to thrive, Frequent ... |
OMIM:619575 |
| Alazami Syndrome |
|
Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing |
ORPHA:319671 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Failure to thrive, Small for gestational age, Neutropenia |
OMIM:615471 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Exaggerated startle response, Irritability |
OMIM:616881 |
| Non-Functioning Paraganglioma |
|
Weight loss, Tremor |
ORPHA:94080 |
| Snijders Blok-Campeau Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618205 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... |
OMIM:251260 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation, Failure to thrive, Self-mutilation, Irritability, Weight loss, Dyst... |
OMIM:619487 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Motor stereotypy |
OMIM:617807 |
| Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:809 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Motor stereotypy |
ORPHA:85277 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Agenesis of corpus callosum |
OMIM:620073 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Lymphocytosis... |
ORPHA:50918 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Weight loss, Failure to thrive |
ORPHA:1842 |
| Prader-Willi Syndrome Due To Translocation |
|
Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Obesity, Reduced social rec... |
ORPHA:177907 |
| Familial Colorectal Cancer Type X |
|
Memory impairment, Depression, Irritability, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:440437 |
| Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Emotional lability, Decreased body weight, Cognitive impairment, Torticollis, Tics, Motor stereot... |
OMIM:619475 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Dementia, Dysphagia, Allodynia |
OMIM:603041 |
| Tay-Sachs Disease |
|
Dementia, Psychomotor deterioration, Exaggerated startle response |
OMIM:272800 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology |
ORPHA:85450 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Small for gestational age |
OMIM:277400 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Lymphadenopathy, Leukem... |
ORPHA:33226 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Weight loss, Hyperactivity, Small for gestational age, Agitation |
ORPHA:424 |
| Granulomatous Disease, Chronic, X-Linked |
|
Granuloma, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy... |
OMIM:306400 |
| American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Head tremor, Motor stereotypy |
OMIM:619428 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic spleen, Cryptorchidism |
OMIM:601186 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy |
OMIM:619877 |
| 22Q11.2 Duplication Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:1727 |
| 5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy |
ORPHA:228384 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Self-injurious behavior, Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia |
OMIM:615895 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... |
ORPHA:447 |
| Hijazi-Reis Syndrome |
|
Motor stereotypy |
OMIM:301094 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Overfriendliness |
OMIM:616579 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Hypogonadism, Anemia, Hypothyroidism, Neutropenia, Leukemia, Small for gestation... |
ORPHA:221008 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss, Anorexia |
ORPHA:1302 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Depression, Emotional lability, Diminished ability to concentrate, Weight loss, Cognitive impairm... |
OMIM:607459 |
| Fusariosis |
|
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutropenia |
ORPHA:228119 |
| Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy |
ORPHA:2221 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:619121 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Increased circulating antibody... |
ORPHA:449432 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:142 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
| Malt Lymphoma |
|
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response |
OMIM:618201 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Decrease... |
ORPHA:125 |
| Parkinson Disease 4, Autosomal Dominant |
|
Dementia, Weight loss |
OMIM:605543 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia |
ORPHA:2930 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Anemia, Neutropenia, Leukemia, Small for gestational age |
ORPHA:2909 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Dysphagia, Cognitive impairment, Failure to thrive, Exaggerated startle response |
OMIM:617527 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Limb dystonia, ... |
ORPHA:646 |
| 2Q37 Microdeletion Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy, Obesity |
ORPHA:1001 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Delayed puberty, Neutropenia |
ORPHA:193 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Lymphadenopathy |
ORPHA:343 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Agitation, Exaggerated startle response |
OMIM:618056 |
| Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Thrombocytosis, Small for ge... |
ORPHA:84064 |
| Secondary Short Bowel Syndrome |
|
Polyphagia, Weight loss, Failure to thrive |
ORPHA:95427 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Motor stereotypy |
ORPHA:500159 |
| Phelan-Mcdermid Syndrome |
|
Bruxism, Reduced social reciprocity, Aggressive behavior, Tongue thrusting, Motor stereotypy |
OMIM:606232 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Tremor |
OMIM:613239 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... |
OMIM:619573 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| 8P23.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Weight loss, Obesity |
ORPHA:251071 |
| Fg Syndrome Type 1 |
|
Compulsive behaviors, Slender build, Attention deficit hyperactivity disorder, Abnormal social be... |
ORPHA:93932 |
| Whim Syndrome |
|
Abnormal neutrophil morphology, Lymphopenia, Neutropenia |
ORPHA:51636 |
| Familial Gestational Hyperthyroidism |
|
Weight loss, Hand tremor, Hyperactivity, Agitation |
ORPHA:99819 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Dystonia, Cachexia |
OMIM:618186 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Cystinosis |
|
Polydipsia, Motor stereotypy, Failure to thrive |
ORPHA:213 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Dystonia, Cachexia, Choreoathetosis |
ORPHA:702 |
| Q Fever |
|
Granuloma, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Lymphadenopath... |
ORPHA:781 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bruxism, Motor stereotypy |
OMIM:616351 |
| Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
| Hypocomplementemic Urticarial Vasculitis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:36412 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
| Eosinophilic Gastroenteritis |
|
Weight loss, Dysphagia |
ORPHA:2070 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Hypothyroidism, Thrombocytopenia, Anemia |
OMIM:620005 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dementia, Dystonia, Exaggerated startle response |
OMIM:272750 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Tremor, Aggressive behavior, Cachexia, Hyperactivity |
ORPHA:85293 |
| Leigh Syndrome |
|
Anemia, Failure to thrive, Neutropenia |
ORPHA:506 |
| Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal temper tantrums, Lateral ventricle dilatation, Low frustration tolerance, Aggressive beh... |
ORPHA:457279 |
| Wiedemann-Steiner Syndrome |
|
Failure to thrive, Short attention span, Low frustration tolerance, Aggressive behavior, Dysphagi... |
ORPHA:319182 |
| Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Stiff-Person Syndrome |
|
Opisthotonus, Depression, Exaggerated startle response |
OMIM:184850 |
| Ménétrier Disease |
|
Weight loss, Anorexia |
ORPHA:2494 |
| Nmda Receptor Encephalitis |
|
Depression, Memory impairment, Oculogyric crisis, Confusion, Short attention span, Motor stereoty... |
ORPHA:217253 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Exaggerated startle response |
OMIM:620114 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
| Helsmoortel-Van Der Aa Syndrome |
|
Lateral ventricle dilatation, Failure to thrive, Bruxism, Obesity, Reduced social reciprocity, Ir... |
OMIM:615873 |
| Beta-Ketothiolase Deficiency |
|
Weight loss, Agitation, Oral aversion, Anorexia |
ORPHA:134 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Dysphagia |
OMIM:617802 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Motor stereotypy |
ORPHA:397612 |
| Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive, Irritability |
ORPHA:92050 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Short attention span, Exaggerated startle response |
ORPHA:438216 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Low frustration tolerance, Motor stereotypy, Hyperactivity, Self-mutilation |
OMIM:300486 |
| Rauch-Steindl Syndrome |
|
Aggressive behavior, Motor stereotypy, Hyperactivity, Failure to thrive |
OMIM:619695 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Motor stereotypy, Agenesis of corpus callosum |
ORPHA:261144 |
| 3P25.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
ORPHA:435638 |
| Carney Triad |
|
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:139411 |
| Polymyositis |
|
Weight loss, Anorexia |
ORPHA:732 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Failure to thrive, Self-mutilation, Stereotypical hand wringing, Aggressive behavior, Motor stere... |
OMIM:212066 |
| Acrodermatitis Enteropathica |
|
Weight loss, Emotional lability, Failure to thrive, Anorexia |
ORPHA:37 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Megaloblastic anemia, Failure to thrive, Neutropenia |
ORPHA:79282 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Anemia, Neutropenia, Leukemia, Small for gestational age |
ORPHA:221016 |
| Kleefstra Syndrome |
|
Self-injurious behavior, Obesity, Self-mutilation, Agenesis of corpus callosum, Aggressive behavi... |
ORPHA:261494 |
| Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Lymphadenopathy, Lymphangi... |
ORPHA:2035 |
| Glossopharyngeal Neuralgia |
|
Depression, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:221098 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:1332 |
| Kleefstra Syndrome 1 |
|
Compulsive behaviors, Aggressive behavior, Obesity, Motor stereotypy |
OMIM:610253 |
| Bainbridge-Ropers Syndrome |
|
Self-injurious behavior, Lateral ventricle dilatation, Failure to thrive, Recurrent hand flapping... |
OMIM:615485 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Failure to thrive, Neutropenia |
ORPHA:175 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... |
ORPHA:99889 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Agitation, Irritability, Hyperactivity, Exaggerated startle response, Dystonia, Impulsivity |
OMIM:620423 |
| Hennekam Syndrome |
|
Lymphopenia, Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia, Decreased c... |
ORPHA:2136 |
| Niemann-Pick Disease, Type C2 |
|
Dementia, Motor stereotypy, Dystonia, Dysphagia |
OMIM:607625 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
ORPHA:488618 |
| Neuroblastoma |
|
Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:635 |
| Majeed Syndrome |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Impaired oropharyngeal swallow response, Failure to thrive, Exaggerated startle response |
ORPHA:521426 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Dysphagia, Failure to thrive, Fatigable weakness of bulbar muscles |
ORPHA:2020 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Giant Cell Arteritis |
|
Depression, Weight loss, Anorexia |
ORPHA:397 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss, Torticollis, Anorexia |
ORPHA:370348 |
| Farber Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:333 |
| Brucellosis |
|
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,... |
ORPHA:1304 |
| Glycogen Storage Disease Ib |
|
Delayed puberty, Splenomegaly, Neutropenia |
OMIM:232220 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Motor stereotypy, Dysphagia |
ORPHA:572013 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:499009 |
| Hermansky-Pudlak Syndrome |
|
Weight loss, Neutropenia |
ORPHA:79430 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
| Asparagine Synthetase Deficiency |
|
Tremor, Failure to thrive, Exaggerated startle response, Irritability |
OMIM:615574 |
| Graft Versus Host Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Lymphadenopathy |
ORPHA:39812 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Neutropenia |
OMIM:617799 |
| Trichothiodystrophy |
|
Anemia, Increased mean corpuscular hemoglobin concentration, Neutropenia |
ORPHA:33364 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss, Anorexia |
ORPHA:100080 |
| Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... |
ORPHA:31150 |
| Pemphigus Vulgaris |
|
Depression, Weight loss |
ORPHA:704 |
| Whipple Disease |
|
Cachexia, Depression, Polydipsia, Anorexia |
ORPHA:3452 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Obesity, Reduced social reciprocity, Aggressive behavior, Polyphagia, Hy... |
ORPHA:96121 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| White-Sutton Syndrome |
|
Self-injurious behavior, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor... |
ORPHA:468678 |
| Alkaptonuria |
|
Methemoglobinemia, Hypothyroidism, Hemolytic anemia |
ORPHA:56 |
| Familial Glucocorticoid Deficiency |
|
Weight loss, Failure to thrive, Anorexia |
ORPHA:361 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Mediastinal lymphadenopathy, Leukocytosis, Hilar lymph node enlargement |
OMIM:620233 |
| Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Motor stereotypy |
ORPHA:529965 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emotional la... |
ORPHA:353281 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Celiac Disease, Susceptibility To, 1 |
|
Depression, Weight loss, Failure to thrive |
OMIM:212750 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Lymphadenopathy |
ORPHA:168569 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:289390 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Bronchial Neuroendocrine Tumor |
|
Weight loss, Anorexia |
ORPHA:97287 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Emotional lability, Obesity, Abnormal fear-induced behavior, Abdominal obesity |
OMIM:219090 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss, Dysphagia |
ORPHA:183 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Limb dystonia, Motor stereotypy |
ORPHA:457351 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Exaggerated startle response |
OMIM:617301 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Self-injurious behavior, Failure to thrive, Frequent temper tantrums, Agenesis of corpus callosum... |
OMIM:619512 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Anorexia |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Anorexia |
ORPHA:100082 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation, Decreased body weight |
OMIM:619005 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss, Irritability |
ORPHA:1501 |
| Pilarowski-Bjornsson Syndrome |
|
Motor stereotypy |
OMIM:617682 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia |
OMIM:175500 |
| Coccidioidomycosis |
|
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Lymphadenopathy, Increased circulati... |
ORPHA:228123 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Tremor |
ORPHA:276621 |
| Van Esch-O'Driscoll Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Excessive shyness, Impulsivity |
OMIM:301030 |
| Late-Onset Isolated Acth Deficiency |
|
Weight loss, Failure to thrive, Anorexia |
ORPHA:199299 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Anorexia |
ORPHA:100085 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Neutropenia |
OMIM:617248 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Histiocytosis |
OMIM:602782 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Self-mutilation, Repetitive compulsive behavior, Self-biting, Dystonia, Motor stereotypy, Choreoa... |
ORPHA:522077 |
| Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Motor stereotypy, Dysphagia |
ORPHA:496641 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Anemia |
OMIM:619418 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Neutropenia |
OMIM:271510 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Pancreatoblastoma |
|
Abnormal lymph node morphology |
ORPHA:677 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Aggressive behavior, Memory impairment, Abnormal social behavior, Intention tremor |
ORPHA:314647 |
| Hydroxykynureninuria |
|
Motor stereotypy |
ORPHA:79155 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Anorexia |
ORPHA:20 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
| Lynch Syndrome |
|
Memory impairment, Depression, Irritability, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:144 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal temper tantrums, Mental deterioration, Oppositional defiant disorder, Short attention sp... |
ORPHA:580 |
| Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Failure to thrive |
OMIM:256700 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Simple Cryoglobulinemia |
|
Progressive neurologic deterioration, Weight loss |
ORPHA:91139 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:1333 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss, Cognitive impairment, Psychomotor deterioration |
ORPHA:275761 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Weight loss |
ORPHA:465508 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve... |
OMIM:181000 |
| Al Amyloidosis |
|
Weight loss, Dysphagia |
ORPHA:85443 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
| Tuberous Sclerosis Complex |
|
Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde... |
ORPHA:805 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Dysphagia, Failure to thrive |
ORPHA:1018 |
| Pulmonary Alveolar Microlithiasis |
|
Weight loss, Fatigable weakness |
ORPHA:60025 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Obesity, Motor stereotypy, Short attention span |
OMIM:301066 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Lymphadenopathy, Thrombocytope... |
ORPHA:79078 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Obesity |
ORPHA:813 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia |
ORPHA:97286 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Agenesis of corpus callosum |
OMIM:253800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Abnormal lateral vent... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Failure to thrive, Abnormal lateral vent... |
ORPHA:353277 |
| Acute Adrenal Insufficiency |
|
Salt craving, Weight loss, Failure to thrive, Anorexia |
ORPHA:95409 |
| Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgE level, Increased circulating IgG4 level, Eosinophilia, L... |
ORPHA:449395 |
| Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy |
ORPHA:2479 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Small for gestational age, Failure to... |
ORPHA:464311 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Tremor |
ORPHA:29072 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy |
OMIM:616393 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... |
ORPHA:99826 |
| Lymphoid Interstitial Pneumonia |
|
Weight loss, Failure to thrive |
ORPHA:79128 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Behçet Disease |
|
Memory impairment, Confusion, Irritability, Weight loss, Anorexia |
ORPHA:117 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Dysphagia, Lateral ventricle dilatation, Exaggerated startle response, Irritability |
OMIM:618367 |
| Reynolds Syndrome |
|
Lymphopenia, Splenomegaly |
OMIM:613471 |
| Neuroendocrine Tumor Of Stomach |
|
Weight loss, Anorexia |
ORPHA:100075 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Small for gestational age, Slender build, Inappropriate laughter, Overfriendliness, Agenesis of c... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Small for gestational age, Slender build, Inappropriate laughter, Overfriendliness, Agenesis of c... |
ORPHA:363958 |
| Schwartz-Jampel Syndrome |
|
Blepharospasm, Decreased body weight, Irritability, Attention deficit hyperactivity disorder, Cac... |
ORPHA:800 |
| Caroli Disease |
|
Weight loss, Anorexia |
ORPHA:53035 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Mend Syndrome |
|
Aggressive behavior, Failure to thrive, Hyperactivity, Abnormal social behavior |
ORPHA:401973 |
| Joubert Syndrome 6 |
|
Motor stereotypy |
OMIM:610688 |
| Osteootohepatoenteric Syndrome |
|
Weight loss, Failure to thrive |
OMIM:619377 |
| Cystinosis, Nephropathic |
|
Polydipsia, Failure to thrive, Failure to thrive in infancy, Weight loss, Progressive neurologic ... |
OMIM:219800 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss, Dysphagia, Tremor |
OMIM:164310 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Motor stereotypy |
OMIM:610954 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Fixated interests, Emotional lability, Hair-pulling, Polyphagia, Attenti... |
OMIM:620330 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Severe failure to thrive, Motor stereotypy, Agenesis of corpus callosum |
ORPHA:468631 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
| Kinsship Syndrome |
|
Bruxism, Motor stereotypy, Failure to thrive |
OMIM:619297 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutroph... |
ORPHA:99827 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss, Anorexia |
ORPHA:100086 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Leukopenia, Increased T cell count, Eosinophilia, Lymphadenopathy... |
ORPHA:797 |
| Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Anorexia |
ORPHA:49041 |
| Mucolipidosis Type Ii |
|
Weight loss, Cognitive impairment |
ORPHA:576 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Seckel Syndrome |
|
Cachexia, Cognitive impairment |
ORPHA:808 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Splenomegaly, Increased circulating antibody level, Increased circulating IgA ... |
OMIM:256040 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Confusion, Cachexia |
ORPHA:220295 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Aicardi-Goutieres Syndrome 7 |
|
Dystonia, Weight loss, Irritability |
OMIM:615846 |
| Erdheim-Chester Disease |
|
Weight loss, Polydipsia |
ORPHA:35687 |
| Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia, Diabetes mellitus |
ORPHA:73263 |
| Juvenile Dermatomyositis |
|
Weight loss, Dysphagia |
ORPHA:93672 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Small for gestational age, Motor stereotypy, Hyperactivity, Failure to thrive |
ORPHA:464306 |
| Stevens-Johnson Syndrome |
|
Weight loss, Dysphagia |
ORPHA:36426 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Eosinophilia, Lymphadenopathy, Increased circulating IgG4 level |
ORPHA:449563 |
| Insulin-Resistance Syndrome Type B |
|
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
| Trisomy 18 |
|
Cachexia, Cognitive impairment |
ORPHA:3380 |
| Developmental And Epileptic Encephalopathy 100 |
|
Motor stereotypy, Dysphagia, Choreoathetosis |
OMIM:619777 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:536 |
| Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy |
ORPHA:100078 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability |
ORPHA:1675 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Irritability, Hair-pulling, Dysphagia, Hyperactivity, Motor stereotypy |
ORPHA:447997 |
| Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss, Tremor |
ORPHA:79102 |
| Riddle Syndrome |
|
Weight loss, Emotional lability |
ORPHA:420741 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Lymphadenopathy |
ORPHA:342 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Developmental And Epileptic Encephalopathy 2 |
|
Motor stereotypy |
OMIM:300672 |
| Addison Disease |
|
Salt craving, Weight loss, Failure to thrive, Anorexia |
ORPHA:85138 |
| Nijmegen Breakage Syndrome |
|
Mental deterioration, Attention deficit hyperactivity disorder, Cachexia |
ORPHA:647 |
| Reactive Arthritis |
|
Weight loss, Cognitive impairment |
ORPHA:29207 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Depression, Failure to thrive, Attention deficit hyperactivity disorder,... |
ORPHA:534 |
| Xfe Progeroid Syndrome |
|
Cachexia, Failure to thrive |
OMIM:610965 |
| Multiple Endocrine Neoplasia Type 1 |
|
Depression, Confusion, Short attention span, Weight loss, Anorexia |
ORPHA:652 |
| Microsporidiosis |
|
Cachexia, Weight loss, Anorexia |
ORPHA:2552 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Glucagonoma |
|
Depression, Weight loss, Anorexia |
ORPHA:97280 |
| African Trypanosomiasis |
|
Tremor, Irritability, Aggressive behavior, Weight loss, Delirium, Choreoathetosis |
ORPHA:3385 |
| Parathyroid Carcinoma |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:143 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:667 |
| Ppoma |
|
Weight loss, Anorexia |
ORPHA:97278 |
| Cockayne Syndrome |
|
Mental deterioration, Action tremor, Cachexia, Cognitive impairment, Intention tremor |
ORPHA:191 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Motor stereotypy |
OMIM:618653 |
| Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Motor stereotypy, Agenesis of corpus callosum |
ORPHA:508498 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system |
ORPHA:538 |
| Primary Sclerosing Cholangitis |
|
Depression, Weight loss |
ORPHA:171 |
| 1P36 Deletion Syndrome |
|
Self-injurious behavior, Failure to thrive, Obesity, Agenesis of corpus callosum, Polyphagia, Dys... |
ORPHA:1606 |
| Somatostatinoma |
|
Weight loss, Anorexia |
ORPHA:97283 |
| Vipoma |
|
Weight loss, Anorexia |
ORPHA:97282 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
| Grfoma |
|
Weight loss, Anorexia |
ORPHA:97261 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy, Failure to thrive |
ORPHA:513456 |
| Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Tremor |
ORPHA:91347 |
| Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Small for gestational age, Neutropenia |
ORPHA:93357 |
| Postinfectious Vasculitis |
|
Weight loss, Anorexia |
ORPHA:48435 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Arboleda-Tham Syndrome |
|
Dystonia, Motor stereotypy, Dysphagia |
OMIM:616268 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hand tremor, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ... |
OMIM:614756 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small for gestational age, Motor stereotypy, Hyperactivity |
OMIM:309590 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Failure to thrive |
ORPHA:99885 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Norrie Disease |
|
Self-injurious behavior, Failure to thrive, Irritability, Attention deficit hyperactivity disorde... |
ORPHA:649 |
| Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
| Fanconi Anemia |
|
Weight loss |
ORPHA:84 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Failure to thrive, Tremor, Truncal obesity, Motor stereotypy |
OMIM:612474 |
| Nocardiosis |
|
Weight loss, Anorexia |
ORPHA:31204 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response |
OMIM:619522 |
| Marfan Syndrome |
|
Slender build, Attention deficit hyperactivity disorder, Cachexia |
ORPHA:558 |
| Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
| Williams Syndrome |
|
Depression, Failure to thrive in infancy, Obesity, Overfriendliness, Tremor, Attention deficit hy... |
ORPHA:904 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Motor stereotypy, Dysphagia |
OMIM:617330 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
| Blau Syndrome |
|
Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:90340 |
| Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
| Wolf-Hirschhorn Syndrome |
|
Motor stereotypy, Small for gestational age, Failure to thrive, Agenesis of corpus callosum |
OMIM:194190 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Dysphagia, Exaggerated startle response, Stereotypical hand wringing |
ORPHA:438213 |
| Dermatomyositis |
|
Weight loss, Dysphagia |
ORPHA:221 |
| Camurati-Engelmann Disease |
|
Slender build, Cachexia, Anorexia |
ORPHA:1328 |
| Chronic Graft Versus Host Disease |
|
Weight loss, Dysphagia, Anorexia |
ORPHA:99921 |
| Pyomyositis |
|
Weight loss |
ORPHA:764 |
| Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormal temper tantrums, Cachexia |
ORPHA:2072 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Coffin-Siris Syndrome 12 |
|
Motor stereotypy, Failure to thrive |
OMIM:619325 |
| Lowe Oculocerebrorenal Syndrome |
|
Aggressive behavior, Motor stereotypy, Failure to thrive |
OMIM:309000 |
| Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
| Primrose Syndrome |
|
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Truncal o... |
OMIM:259050 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Motor stereotypy |
OMIM:301044 |
| Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
| Leptospirosis |
|
Lymphadenopathy, Thrombocytopenia |
ORPHA:509 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss, Anorexia |
ORPHA:91500 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Failure to thrive |
ORPHA:90794 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Mowat-Wilson Syndrome |
|
Bruxism, Reduced social reciprocity, Agenesis of corpus callosum, Decreased body weight, Dysphagi... |
ORPHA:2152 |
| Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Motor stereotypy |
OMIM:616682 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Lateral ventricle dilatation, Failure to thrive, Bruxism, Agenesis of corpus callosum, Dysphagia,... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Lateral ventricle dilatation, Failure to thrive, Bruxism, Agenesis of corpus callosum, Dysphagia,... |
ORPHA:261552 |
| Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
