| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... |
ORPHA:169154 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Hepatosple... |
OMIM:619924 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... |
ORPHA:277 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, I... |
OMIM:615285 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... |
ORPHA:98813 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 67 |
|
Transient neutropenia, Increased circulating IgE level, Liver abscess |
OMIM:607676 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... |
ORPHA:179494 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Inc... |
OMIM:308230 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Immunodeficiency 102 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... |
OMIM:301082 |
| Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... |
OMIM:619752 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Increased circulating IgE level, Thyroiditis, Delay... |
OMIM:618985 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level,... |
OMIM:602450 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... |
ORPHA:93356 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowing |
ORPHA:2768 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep... |
OMIM:304790 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm... |
OMIM:601859 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... |
OMIM:619510 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Absent specific antibody response, Hepatomegaly, Severe B lymphocytop... |
OMIM:102700 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... |
OMIM:243700 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Increased ci... |
ORPHA:443811 |
| Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia |
OMIM:608971 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
| Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
| Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Impaired vibration sensation in the lower limbs, Acute myelomonocytic leuke... |
OMIM:159550 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Somatic sensory dysfunction, Ataxia, Abscess, Eosinophilia, Increased circulati... |
OMIM:615816 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Elevated circulating follicle stimulating hormon... |
OMIM:620103 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocytopenia, Hemophagocytosis, N... |
OMIM:603552 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... |
ORPHA:572 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... |
ORPHA:449400 |
| Spermatogenic Failure 28 |
|
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... |
OMIM:618086 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypoxemia, Leukocytosis, Increased circulating IgE level, Hypereosinophilia |
ORPHA:2902 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:616030 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Abnormal thymus mo... |
OMIM:611926 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Decreased serum testosterone concentration, Ataxia, Dysmetria |
OMIM:609195 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm... |
OMIM:603909 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... |
OMIM:615962 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... |
OMIM:618282 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Decreased circulating lutei... |
ORPHA:453533 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellu... |
OMIM:301078 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Splenomegaly, Hypogonadism, Decreased serum testo... |
OMIM:201100 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Impaired vibration sensation at ankles |
ORPHA:101006 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Abscess, Thrombocytopenia, Decreased circulating total IgM, Decr... |
OMIM:615758 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... |
ORPHA:169160 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
| Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ... |
ORPHA:180229 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ... |
ORPHA:276 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Lead Poisoning |
|
Somatic sensory dysfunction, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Ab... |
ORPHA:330015 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration, Hypoplasia of th... |
OMIM:614841 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:163976 |
| Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lympho... |
ORPHA:331206 |
| Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... |
OMIM:616005 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Neutropenia |
OMIM:266130 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
| Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Increased circulating antibody level, Hyperinsulinemic hypog... |
ORPHA:411593 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Aspergillosis |
|
Eosinophilia, Increased circulating IgE level, Hepatitis, Neutropenia |
ORPHA:1163 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Elevated circula... |
OMIM:273250 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level |
OMIM:616740 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Abnormalit... |
ORPHA:449432 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia |
OMIM:610738 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... |
OMIM:614897 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, D... |
OMIM:275350 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
| Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgG level, Decreas... |
OMIM:618495 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocy... |
ORPHA:37042 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Hypogonadism |
ORPHA:3409 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level |
OMIM:256500 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... |
ORPHA:158061 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Lymphopenia... |
OMIM:604250 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
| Alg6-Cdg |
|
Ataxia, Puberty and gonadal disorders, Jaundice, Increased circulating androgen concentration, Ab... |
ORPHA:79320 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Microcyt... |
ORPHA:2959 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Methemoglobinemia, ... |
OMIM:250790 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Spleno... |
ORPHA:158057 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased serum testosterone concentration, Increased circulating gonadotropin level, Hypogonadism |
OMIM:300869 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Chorea, Anemia, Choreoathetosis, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, De... |
OMIM:308700 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:163971 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... |
ORPHA:90795 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ... |
ORPHA:2298 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious pube... |
ORPHA:562 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia |
ORPHA:37748 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Neutropenia, Agammaglobulinemia, Decreased circulating total IgM, T lympho... |
OMIM:300755 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Cln3 Disease |
|
Left ventricular hypertrophy, Vacuolated lymphocytes, Ataxia, Increased circulating androgen conc... |
ORPHA:228346 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Neutropenia, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:618752 |
| Ovarian Fibrothecoma |
|
Peritonitis, Ascites, Abnormal circulating hormone concentration, Increased serum testosterone level |
ORPHA:314478 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bowing, Femo... |
OMIM:600785 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level... |
ORPHA:397596 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... |
OMIM:598500 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Ataxia, Acu... |
OMIM:208900 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, G... |
ORPHA:52901 |
| Grant Syndrome |
|
Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Central diab... |
ORPHA:91348 |
| 49,Xxxyy Syndrome |
|
Male hypogonadism, Increased circulating gonadotropin level, Primary gonadal insufficiency, Decre... |
ORPHA:261534 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... |
ORPHA:540 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Choreoathetosis, Neutropenia, Pancreatitis, Anemia |
ORPHA:79312 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Decreased serum estradiol, Male hypogonad... |
ORPHA:168563 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
| 46,Xx Sex Reversal 5 |
|
Increased serum testosterone level |
OMIM:618901 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Neutropenia |
OMIM:616949 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenome... |
ORPHA:158048 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone level |
ORPHA:96181 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... |
OMIM:618048 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Increased hepat... |
ORPHA:90003 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Increased serum estradiol, Increased circulating ... |
ORPHA:99429 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Increased circulating gonadotropin level, Primary gonadal insufficiency, Decre... |
ORPHA:99330 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Leukocytosis, Distal sensory impairment, Choreoathetosis, Increased ... |
ORPHA:206594 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti... |
ORPHA:2137 |
| Gonadoblastoma |
|
Increased serum testosterone level |
ORPHA:206484 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Reduced circulating growth hormone concentration |
OMIM:615508 |
| O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Increased ... |
ORPHA:77259 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:618723 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... |
ORPHA:90796 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia... |
OMIM:617591 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Severe B lymp... |
ORPHA:293978 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Slc35A1-Cdg |
|
Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal mesentery morp... |
ORPHA:449395 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
| Tempi Syndrome |
|
Hypoxemia, Increased circulating IgG level, Increased hematocrit, Ascites, Polycythemia |
ORPHA:284227 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level |
OMIM:616185 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618117 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl... |
ORPHA:398124 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... |
OMIM:209920 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Poems Syndrome |
|
Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Primary adrenal insufficien... |
ORPHA:2905 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level, Cirrhosis |
OMIM:178500 |
| Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... |
OMIM:619665 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Absce... |
ORPHA:400 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insulin-dependent di... |
ORPHA:1667 |
| Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Increased circulating gonadotropin level, Ab... |
ORPHA:755 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Increased circulating IgG level, Increased circulating IgM level, ... |
ORPHA:83313 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:305400 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... |
ORPHA:90794 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... |
ORPHA:449563 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
OMIM:170100 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Splenom... |
OMIM:214500 |
| Ovarian Hyperstimulation Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Ascites, Increased serum t... |
ORPHA:64739 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Decreased serum testosterone concentration, Elevated circulating follic... |
ORPHA:3044 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... |
OMIM:619834 |
| Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal... |
ORPHA:284 |
| Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... |
ORPHA:3392 |
| Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Increased serum estradiol, Increased circulating ... |
ORPHA:90797 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Ataxia, Increased circulating IgA level, Peritonitis, Acrocyanosis |
ORPHA:343 |
| Caffey Disease |
|
Increased circulating antibody level, Hyperesthesia |
ORPHA:1310 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Increased circulating ACTH l... |
ORPHA:90790 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:617690 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Absence of secondary sex characteristics, Abs... |
ORPHA:432 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... |
ORPHA:83471 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level |
ORPHA:247768 |
| Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... |
OMIM:618187 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, At... |
ORPHA:2495 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, He... |
ORPHA:391487 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| 47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level |
ORPHA:8 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... |
OMIM:601495 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... |
ORPHA:319218 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Ataxia, Fluctuating splenomegaly, F... |
OMIM:610377 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... |
OMIM:620311 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Elevated circulating thyroid-stimu... |
OMIM:242900 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Choreoathetosis, Bone marrow hypocellularity, I... |
ORPHA:445038 |
| Trichothiodystrophy 3, Photosensitive |
|
Abdominal adhesions, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Decreased serum estradiol, Elevated circulating follicle stimulating hormone level,... |
OMIM:615723 |
| Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cell hyperplasia, P... |
ORPHA:373 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
| Pneumocystosis |
|
Hypoxemia, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Impaired T cell function, Abnormal lymphocyte physiology, Thro... |
ORPHA:1830 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Decreased circulating progesterone, Primary gonadal insufficiency |
OMIM:603896 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Hepatitis, Agammaglobulinemia, Neutropen... |
ORPHA:47 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... |
OMIM:608233 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of CD4-positive helper T cells... |
OMIM:242840 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest... |
ORPHA:292 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Abnormal ... |
ORPHA:47612 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Abnormality of the thyroid gland, Jaundice,... |
ORPHA:186 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Increased circulating IgM level, Leukopenia... |
OMIM:617303 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence o... |
ORPHA:2232 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:606054 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia... |
ORPHA:91139 |
| Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Hepatitis, Neutropenia |
ORPHA:33110 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, D... |
OMIM:232220 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytopen... |
OMIM:260400 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Increased circulating IgG level, Leukopenia, Thrombocytosis, Lym... |
OMIM:615934 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... |
OMIM:613989 |
| Papa Syndrome |
|
Type I diabetes mellitus, Increased circulating antibody level |
ORPHA:69126 |
| Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
| Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia,... |
ORPHA:167 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia, Increased circulating antibod... |
ORPHA:77261 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chorea, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Gait ataxia, P... |
OMIM:606002 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Cyanosis, Splenomegaly, Jaundice... |
ORPHA:90051 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism, Increased circulating antibody level |
ORPHA:48377 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... |
ORPHA:555905 |
| Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Decreased response to growth h... |
ORPHA:470 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Neutropenia |
OMIM:620012 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Tooth... |
ORPHA:2686 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Somatic sensory dysfunction, Chronic active hepatitis, Chorea, Decreased propo... |
ORPHA:289390 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Hepatospl... |
ORPHA:781 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Thrombocytope... |
OMIM:617941 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... |
ORPHA:251510 |
| Apparent Mineralocorticoid Excess |
|
Left ventricular hypertrophy, Decreased circulating aldosterone level, Abnormality of circulating... |
ORPHA:320 |
| C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia... |
OMIM:612541 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... |
OMIM:158330 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu... |
ORPHA:2169 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Hepatomegaly, Hypothyroidism, Microcytic anemia |
OMIM:251900 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Choreoathetosis, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia |
OMIM:616271 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:216550 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... |
OMIM:201810 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ... |
ORPHA:64744 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia |
ORPHA:293173 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia, Hypothyroidism |
OMIM:607944 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
| Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Delayed pub... |
OMIM:615363 |
| Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... |
ORPHA:273 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
| 46,Xx Sex Reversal 2 |
|
Decreased serum testosterone concentration |
OMIM:278850 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Ne... |
OMIM:617052 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Hepatitis, ... |
OMIM:619381 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Neutropenia, Ascites, Thrombocytopenia |
ORPHA:391673 |
| Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Bone marrow hypocellularity, Decreased response to growth hormone stimulation tes... |
OMIM:609053 |
| Testicular Agenesis |
|
Increased circulating gonadotropin level, Decreased serum testosterone concentration |
ORPHA:325124 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration |
ORPHA:2976 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Hepatomegaly, Neutropenia |
OMIM:617050 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocyto... |
ORPHA:1304 |
| Viss Syndrome |
|
Increased circulating IgE level, Hypereosinophilia, Decreased circulating IgA level, Increased ci... |
OMIM:619472 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hypothyroidism, Hyperlipidemia, Delayed ... |
ORPHA:79259 |
| Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
| Whim Syndrome |
|
Abnormal neutrophil morphology, Limb ataxia, Decreased circulating antibody level, Neutropenia, L... |
ORPHA:51636 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia |
OMIM:618253 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Hepatocellular carcinoma, Chronic pancreatitis, Hyperlipidemia,... |
OMIM:232240 |
| Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level... |
ORPHA:85443 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... |
OMIM:256040 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, T... |
OMIM:600901 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Somatic sensory dysfunction, Leukocytosis, Increased circulating I... |
ORPHA:297 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Splenomegaly, Hypothyroidism, Thrombocytopenia, Hep... |
OMIM:615846 |
| Japanese Encephalitis |
|
Neutrophilia, Choreoathetosis, Increased circulating IgM level, Increased circulating antibody le... |
ORPHA:79139 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Ataxia, Choreoathetosis, Neutropenia |
OMIM:615471 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... |
OMIM:251260 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Increased circulating gonadotropin level, Delayed puberty, Decreased serum testoste... |
ORPHA:1772 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Hypergonadotropic hypogonadism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, T... |
OMIM:227650 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Reticulocytopenia, Bone marrow hy... |
OMIM:227645 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatitis, Increased circulating IgG l... |
ORPHA:319251 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... |
ORPHA:2330 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia, Increased circulating IgM level, Leukopenia, Bone m... |
ORPHA:505248 |
| Congenital Analbuminemia |
|
Hypercholesterolemia, Hyperlipidemia, Increased circulating antibody level |
ORPHA:86816 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
| Aapoaiv Amyloidosis |
|
Diabetes mellitus, Hyperlipidemia, Paraproteinemia |
ORPHA:439232 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia, Hepatitis, Increased circulat... |
ORPHA:355 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Jaundice, Leukocytosi... |
ORPHA:99827 |
| Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
| Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... |
ORPHA:228119 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypoplasia of the thymus, Truncal ataxia, Increased serum testosterone level |
OMIM:264090 |
| Robinow Syndrome |
|
Decreased serum testosterone concentration |
ORPHA:97360 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Reduced number of intrahepatic bile ducts, Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
| Leigh Syndrome |
|
Ataxia, Chorea, Choreoathetosis, Athetosis, Neutropenia, Hepatic failure, Anemia |
ORPHA:506 |
| African Trypanosomiasis |
|
Hepatomegaly, Somatic sensory dysfunction, Abnormality of the endocrine system, Splenomegaly, Jau... |
ORPHA:3385 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Reticulocytopenia, Bone marrow hy... |
OMIM:227646 |
| Lassa Fever |
|
Increased circulating IgM level, Jaundice |
ORPHA:99824 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Hypoxemia, Increased ... |
OMIM:181000 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Dysesthesia, Jaundice, Neutrophilia ... |
ORPHA:99826 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Thrombocytopenia, Leukopenia, ... |
ORPHA:50918 |
| Coccidioidomycosis |
|
Abscess, Eosinophilia, Abnormality of the endocrine system, Abnormality of the spleen, Peritoniti... |
ORPHA:228123 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Scleromyxedema |
|
Paraproteinemia, Abnormality of thyroid physiology |
ORPHA:167635 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Decreased serum testosterone concentration |
ORPHA:495875 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Thyr... |
ORPHA:79078 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Neutropenia |
OMIM:618005 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Gait ataxia, Neutropenia, Panhypogammaglobul... |
ORPHA:33364 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia |
ORPHA:175 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia, Congenital hypothyroidism |
OMIM:271510 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Neutrophilia, Elevated cir... |
ORPHA:99829 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Neutropenia, Pancreatitis... |
ORPHA:537 |
| Cohen Syndrome |
|
Neutropenia, Delayed puberty |
ORPHA:193 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Megaloblastic anemia, Jaundice, Neutropenia, Thrombocytopenia |
ORPHA:79282 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Increased circulating IgA level, Abnormality of humoral immunity, Increased circ... |
ORPHA:48435 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Hypogonadism, Neutropenia, Leukemia, Hypothyroidism, Anemia |
ORPHA:221008 |
| Cysticercosis |
|
Somatic sensory dysfunction, Increased circulating antibody level, Ataxia |
ORPHA:1560 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Neutropenia |
OMIM:617799 |
| Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
| Zygomycosis |
|
Brain abscess, Diabetes mellitus, Peritonitis, Hepatitis, Neutropenia, Splenic abscess, Pancreatitis |
ORPHA:73263 |
| Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:2909 |
| Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:572333 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neutropenia |
OMIM:617248 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... |
ORPHA:91500 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Sponastrime Dysplasia |
|
Precocious puberty, Neutropenia, Hypothyroidism, Decreased circulating antibody level |
ORPHA:93357 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Anemia, Neutropenia |
ORPHA:95455 |
