Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... |
OMIM:615214 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymphadenopathy, T ... |
OMIM:608971 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Incre... |
OMIM:615285 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... |
OMIM:613501 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia |
OMIM:616022 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu... |
OMIM:150550 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE... |
OMIM:606843 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... |
OMIM:615513 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... |
OMIM:618986 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, ... |
OMIM:603552 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Decreased circulating antibody leve... |
OMIM:616740 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... |
OMIM:619707 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... |
OMIM:212050 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched m... |
OMIM:619126 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia |
OMIM:193670 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Splenomegaly, Fulminant hepatitis, Decreased... |
OMIM:308240 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... |
OMIM:618806 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Diarrhea,... |
ORPHA:277 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocyt... |
OMIM:301078 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of anti-neutropil... |
OMIM:607594 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... |
OMIM:301082 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnormality o... |
ORPHA:158061 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... |
ORPHA:2688 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia, Lymphadenopa... |
OMIM:615387 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Diarrhea, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... |
OMIM:618204 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomeg... |
OMIM:209950 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical... |
ORPHA:2686 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... |
OMIM:619281 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Generalized Eruptive Histiocytosis |
|
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis |
ORPHA:157991 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphad... |
OMIM:613101 |
Immunodeficiency 19 |
|
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal... |
OMIM:615617 |
Kimura Disease |
|
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Chronic diarrhea, Ileus, H... |
OMIM:304790 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Chronic diarrhe... |
OMIM:300400 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... |
OMIM:620282 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul... |
OMIM:619752 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... |
OMIM:601457 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:601859 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Abnormalit... |
ORPHA:540 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de... |
OMIM:616100 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... |
ORPHA:47 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lym... |
OMIM:603909 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia |
OMIM:618752 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Diar... |
ORPHA:486 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... |
OMIM:615518 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Lymphade... |
OMIM:618495 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Hemochromatosis, Type 3 |
|
Arthritis, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Gastroeso... |
ORPHA:443811 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia... |
OMIM:308230 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... |
OMIM:615559 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopen... |
ORPHA:98850 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... |
OMIM:611762 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... |
ORPHA:397596 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormal lymph no... |
ORPHA:543 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... |
ORPHA:3392 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Lymphadenopa... |
ORPHA:47612 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Bronchiectasis, Hepatit... |
ORPHA:33110 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H... |
OMIM:300635 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Eczema, Chronic diarrhea, Oligoarthritis, T lymphocytopenia, Dec... |
OMIM:619510 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro... |
OMIM:617827 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... |
OMIM:613011 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increased circulating IgM leve... |
ORPHA:37748 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior |
OMIM:620270 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Lymphadenopa... |
OMIM:240500 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Chroni... |
OMIM:602450 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... |
ORPHA:248111 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... |
OMIM:601495 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Recurrent otitis media, Neutrop... |
OMIM:617475 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... |
ORPHA:507 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... |
OMIM:226990 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... |
ORPHA:98813 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa... |
OMIM:615122 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... |
OMIM:610163 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Diarrhea, Decreased circulating antibody level, Leukopenia... |
ORPHA:33355 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine signaling, Ane... |
ORPHA:158048 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr... |
OMIM:608184 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Chronic diarrhea, Diarrhe... |
OMIM:617099 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... |
OMIM:616871 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Diarrhea, Cervical lymphadenopathy, Lymphadenopathy, Leukopen... |
ORPHA:83313 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Protracted diarrhea, Agammaglobu... |
OMIM:209920 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia |
ORPHA:289916 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Hepatospleno... |
OMIM:612840 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:242700 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Decreased cir... |
OMIM:275350 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Diarrhea, Abnormality of the lymphatic system, Abnorm... |
ORPHA:54251 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... |
ORPHA:37042 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Anemia, Neutropenia |
OMIM:617056 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... |
OMIM:618048 |
Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, S... |
OMIM:619375 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ ... |
ORPHA:98848 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A... |
OMIM:607115 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Stomatitis, Thrombo... |
ORPHA:520 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis |
ORPHA:382 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash, Splenomegaly... |
ORPHA:398124 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Thrombocytopenia,... |
OMIM:214500 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Microcytic anemia |
OMIM:618852 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Chronic oral candidiasis, Decreased proportion of n... |
ORPHA:276 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Anemia, Leukopen... |
ORPHA:292 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Constipation, Recurrent pneumonia, Gastroesophageal reflux, Neutropenia |
OMIM:620012 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Myeloprol... |
ORPHA:3226 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, ... |
OMIM:608106 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Lymphadenopathy |
ORPHA:99976 |
Bone Marrow Failure Syndrome 4 |
|
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... |
OMIM:618116 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:2584 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Abscess, Eczema, Allerg... |
OMIM:615816 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... |
ORPHA:228119 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Tubulointerstitial nephritis, Vomiting, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph... |
ORPHA:51636 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, Steppage gait, Attentio... |
ORPHA:98818 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Propionic Acidemia |
|
Pancytopenia, Eczema, Anemia, Vomiting, Constipation, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:606054 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Chronic diarrhea, Leukopenia, Bone marrow hypocellularity, Neutrop... |
OMIM:613989 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Asplenia, Cervical lymphaden... |
OMIM:614034 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Diarrhea, Lymp... |
OMIM:603554 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br... |
ORPHA:1163 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Arthritis, Panniculitis, C... |
OMIM:617591 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... |
OMIM:619644 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopen... |
ORPHA:100026 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... |
ORPHA:79124 |
Necrotizing Enterocolitis |
|
Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Hepatitis, Decreased circulating antibody level, Lympha... |
ORPHA:381 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Poikiloderma With Neutropenia |
|
Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne... |
OMIM:604173 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Dysphagia, Bronchiectasis, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
Omenn Syndrome |
|
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Lymphadenopat... |
ORPHA:39041 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... |
OMIM:608233 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, Complete or ne... |
OMIM:605258 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... |
ORPHA:508542 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... |
ORPHA:69126 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Gastroesophageal reflux, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... |
OMIM:619313 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Splenomegaly, Leukocytosis, Diarrhea, Enteroco... |
ORPHA:90051 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Immunodeficiency 40 |
|
Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pn... |
OMIM:616433 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte m... |
ORPHA:3162 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Immunodeficiency 54 |
|
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis |
ORPHA:42642 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, An... |
ORPHA:811 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Diarrhea, Anemia, Lymphadenopathy |
ORPHA:858 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent otitis medi... |
OMIM:607944 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Increased circulating IgM level, Bone marr... |
OMIM:617303 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... |
OMIM:615607 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, M... |
ORPHA:829 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody ... |
OMIM:617718 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis, Lymphadenopathy |
OMIM:617772 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233710 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubuloint... |
ORPHA:139402 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Increased circulating IgA level, Pustule, Follicular hyperplasia, Malar rash... |
OMIM:615934 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Vomiting, Neutropenia |
ORPHA:2169 |
Roifman Syndrome |
|
Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... |
ORPHA:353298 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... |
OMIM:242900 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Skin rash, Pustule, Splenomegaly, Myocarditis, Cervical lymphadenopa... |
ORPHA:50918 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Diarrhea, Lymphadenopathy, Vomiting, Myel... |
ORPHA:79456 |
Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Thrombocytopenia, Decreased proportion of naive CD8 T cells, A... |
ORPHA:1830 |
Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Vomiting, Constipation,... |
OMIM:257200 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233690 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Anemia, Vomiting, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Graft Versus Host Disease |
|
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Di... |
ORPHA:39812 |
Cinca Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis, Uveitis, Lymp... |
ORPHA:1451 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, T lymphocytopenia, Increased circulating IgM leve... |
OMIM:242860 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... |
ORPHA:169105 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Decreased... |
ORPHA:1572 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia, Recurrent otitis ... |
OMIM:612562 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Neutropenia, Infectious ence... |
ORPHA:73263 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... |
ORPHA:167 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa... |
ORPHA:2330 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Sple... |
ORPHA:809 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Megaloblastic anemia, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:277380 |
3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h... |
OMIM:617052 |
Roifman Syndrome |
|
Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media |
OMIM:616651 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Vomiting, Intractable diarrhea... |
OMIM:619381 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Atypical or p... |
ORPHA:83471 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile rheumatoid art... |
ORPHA:85414 |
Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Dysphagia, Chronic mucocutaneo... |
OMIM:242840 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Anemia, Neutropen... |
OMIM:260400 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Neutropenia |
ORPHA:1667 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess... |
OMIM:301074 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Diarrhea, Malar rash, Lymphadenopathy, Leukopenia, Arthr... |
ORPHA:93552 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Neutropenia, Stomatitis, Megaloblastic anemia |
ORPHA:79284 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Diarrhea, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone... |
ORPHA:549 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Anemia, Vomiting, Neutropenia, Thrombocytopenia |
OMIM:251100 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Recurrent pneumonia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level,... |
OMIM:619750 |
Castleman Disease |
|
Intestinal obstruction, Increased circulating interleukin 6 concentration, Generalized lymphadeno... |
ORPHA:160 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Diarrhea, Neutropenia, Steatorrhea, Thrombocytopenia, Exocrine pancreatic insu... |
OMIM:617941 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Pseudomyxoma Peritonei |
|
Intestinal obstruction, Constipation, Lymphadenopathy, Inflammation of the large intestine |
ORPHA:26790 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... |
OMIM:615966 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Leukocytosis, Diarrhea, Hepat... |
OMIM:610377 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Chronic diarrhea, Reticulocytopenia, Steato... |
OMIM:557000 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Skin rash, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Hepatosplenomegaly... |
OMIM:615688 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Leu... |
ORPHA:32960 |
Rhabdoid Tumor |
|
Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Gout, Inflammation of the large intestine, Neutropenia, Pancreatitis |
OMIM:232220 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:306400 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Skin rash, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Lymphadenopathy, H... |
OMIM:603553 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Diarrhea, Anemia, Leukopenia, Vomiting, Thrombocytopenia |
ORPHA:91547 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Vomiting, Infect... |
ORPHA:1304 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... |
OMIM:620242 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227645 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infectious encephalitis, Thr... |
OMIM:267700 |
Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... |
ORPHA:723 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Lymphadenopathy, Hematochezi... |
OMIM:615895 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Gastroesophageal reflux, Dysphagia, Neutropenia |
OMIM:615471 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis |
OMIM:615978 |
American Trypanosomiasis |
|
Skin rash, Splenomegaly, Diarrhea, Myocarditis, Lymphadenopathy, Achalasia, Infectious encephalitis |
ORPHA:3386 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, Thrombocytopenia |
ORPHA:169090 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... |
ORPHA:449291 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Peritonitis, Chronic ... |
OMIM:249100 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Osteomye... |
OMIM:614162 |
Desmoplastic Small Round Cell Tumor |
|
Mediastinal lymphadenopathy, Ileus, Anemia, Lymphadenopathy |
ORPHA:83469 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis |
ORPHA:83317 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Hepatosplenomegaly, Lymphadenopath... |
ORPHA:85450 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Stomatitis |
OMIM:612852 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Dysphagia, ... |
OMIM:610217 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Lig4 Syndrome |
|
Leukocytosis, Lymphadenopathy, Pancytopenia, Acute leukemia |
ORPHA:99812 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Peritonitis... |
ORPHA:343 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Lymphadenopathy |
OMIM:254400 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Neutropenia, Anemia, Conjunctivitis, Dysphagia, Pancreatitis, Thromb... |
ORPHA:537 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myocarditis, Hepat... |
ORPHA:781 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Diarrhea, Generalized lymphadenopathy, Skin rash |
ORPHA:33276 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopat... |
OMIM:142680 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Keratitis, Splenomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:525731 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Skin rash, Diarrhea, Vomiting, Neutropenia, Leukemia, Malar rash, Anemia |
ORPHA:2909 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:33364 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Splenomegaly, Diarrhea, Uveitis, Lymphadenopathy, Arthritis, Conjunctivi... |
ORPHA:36412 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Sinusitis, Decreased circulating IgG2 level, Chronic diarrhea, B... |
OMIM:208900 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Cholangitis, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, H... |
ORPHA:228426 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Dysphagia, Anemia, Neutropenia |
OMIM:618460 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227646 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep... |
ORPHA:36234 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Abnormality of neutrophils, Splenomegaly, Diarrhe... |
ORPHA:33226 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia |
ORPHA:36238 |
Leigh Syndrome |
|
Dysphagia, Eczema, Anemia, Neutropenia |
ORPHA:506 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Diarrhea, Lymphadenopathy, Vomiting, Nausea |
ORPHA:79455 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Chronic constipation, Gastroesophageal reflux, Eczema, Neutropenia |
OMIM:617799 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Di... |
ORPHA:542323 |
Pleural Mesothelioma |
|
Lymphadenopathy, Dysphagia |
ORPHA:50251 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... |
ORPHA:289390 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammation... |
ORPHA:79259 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Chronic diarrhea, Dysphagia, Steatorrhea, Anemia, Bo... |
ORPHA:699 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar... |
ORPHA:536 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis |
OMIM:232240 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Diarrhea, Vomiting, Neutropenia, Leukemia, Anemia |
ORPHA:221008 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Bronchiectasis, Gastroesophageal ref... |
OMIM:620233 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Hepatosplenomegaly, Syno... |
ORPHA:85408 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Constipation, Posterior uveitis, Anemia |
ORPHA:52417 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Vomiting, Neutrophilia, Leukocytosis, Chronic ... |
ORPHA:3260 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Abscess, Pneumonia, Erythema nodosum, Abnor... |
ORPHA:228123 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Diarrhea, Vomiting, Neutropenia, Leukemia, Anemia |
ORPHA:221016 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stomatitis, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Cartilage-Hair Hypoplasia |
|
Decreased circulating antibody level, Anemia, Neutropenia |
ORPHA:175 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Neutropenia |
ORPHA:79430 |
Lymphatic Filariasis |
|
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Hypereosinophilia, Epididymitis... |
ORPHA:2035 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Xer... |
ORPHA:449432 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Pancrea... |
ORPHA:99826 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Chronic constipation, Neutropenia |
ORPHA:163956 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
H Syndrome |
|
Psoriasiform dermatitis, Microcytic anemia, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, ... |
ORPHA:168569 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Lymphadenopathy |
ORPHA:2221 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Acute Interstitial Pneumonia |
|
Bronchiectasis, Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Generalized... |
OMIM:615846 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Bronchiectasis, Lymphadenopathy |
ORPHA:411703 |
Argininemia |
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Irritability, Hyperactivity, Spastic gait, Anorexia |
OMIM:207800 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Familial Mediterranean Fever |
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Intestinal obstruction, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Diarrhea... |
ORPHA:342 |
Thyroid Lymphoma |
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Lymphadenopathy, Hashimoto thyroiditis, Dysphagia |
ORPHA:97285 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Oral-pharyngeal dys... |
ORPHA:95455 |
Carney Triad |
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Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Diarrhea, Lymphadenopathy, Anemia |
ORPHA:139411 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Gait dis... |
OMIM:234200 |
Hennekam Syndrome |
|
Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibody level, Lymphadenopathy, ... |
ORPHA:2136 |
Crimean-Congo Hemorrhagic Fever |
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Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbilliform rash, Ne... |
ORPHA:99827 |
Nijmegen Breakage Syndrome |
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Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Diarrhea, Recurrent pneumonia, Bron... |
OMIM:251260 |
3-Methylglutaconic Aciduria, Type Viii |
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Dysphagia, Neutropenia |
OMIM:617248 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Recurrent pneumoni... |
ORPHA:508533 |
Farber Disease |
|
Chronic diarrhea, Hepatosplenomegaly, Anemia, Arthritis, Lymphadenopathy, Thrombocytopenia |
ORPHA:333 |
Multiple Myeloma |
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Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Episcleritis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Histio... |
OMIM:602782 |
Melkersson-Rosenthal Syndrome |
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Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy |
ORPHA:2483 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Episcleritis, Increased circulating interleukin 6 concentration, Parotitis, Increased circulating... |
OMIM:256040 |
Igg4-Related Kidney Disease |
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Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Increased circulating IgG4 leve... |
ORPHA:449395 |
Familial Pancreatic Carcinoma |
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Lymphadenopathy, Hepatosplenomegaly, Intermittent diarrhea, Peritoneal abscess, Exocrine pancreat... |
ORPHA:1333 |
Kawasaki Disease |
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Pericarditis, Skin rash, Myocarditis, Leukocytosis, Diarrhea, Cervical lymphadenopathy, Hepatitis... |
ORPHA:2331 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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T lymphocytopenia, Episodic vomiting, Gastroesophageal reflux, Microcytic anemia |
ORPHA:2959 |
Poems Syndrome |
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Thrombocytosis, Polycythemia, Lymphadenopathy, Increased circulating antibody level |
ORPHA:2905 |
Medullary Thyroid Carcinoma |
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Diarrhea, Lymphadenopathy, Dysphagia |
ORPHA:1332 |
Leukocyte Adhesion Deficiency Type Ii |
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Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Abnormal isohemagglutinin level... |
ORPHA:99843 |
Squamous Cell Carcinoma Of The Anal Canal |
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Intestinal bleeding, Lymphadenopathy |
ORPHA:424019 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Incr... |
ORPHA:449563 |
Anaplastic Thyroid Carcinoma |
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Lymphadenopathy, Dysphagia |
ORPHA:142 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Sarcoidosis |
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Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Parotitis, Erythema nodosum, Increased T... |
ORPHA:797 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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T lymphocytopenia, Abnormal B cell morphology, Hashimoto thyroiditis, Aplasia of the thymus |
OMIM:618223 |
Meige Disease |
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Recurrent bacterial skin infections, Recurrent skin infections, Lymph node hypoplasia, Absence of... |
ORPHA:90186 |
Immunodeficiency 87 And Autoimmunity |
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Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Thyroidi... |
ORPHA:79078 |
Behçet Disease |
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Gastrointestinal hemorrhage, Increased inflammatory response, Myositis, Pericarditis, Acne, Orchi... |
ORPHA:117 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Sarcoidosis, Susceptibility To, 1 |
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Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Iridocyclitis, Mediastinal lymphadenopat... |
OMIM:181000 |
Aspartylglucosaminuria |
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Diarrhea, Vacuolated lymphocytes, Acne, Neutropenia |
OMIM:208400 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Splenomegaly, Lymphadenopathy, Vomiting, Polysplenia, Anemia, Exocrine pancreat... |
OMIM:619418 |
Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Hematemesis, Protracted diarrhea, Melena, Iron deficiency ... |
ORPHA:100075 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentration, H... |
ORPHA:99829 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... |
ORPHA:31150 |
Blau Syndrome |
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Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, X... |
ORPHA:90340 |
Pancreatoblastoma |
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Diarrhea, Vomiting, Abnormal lymph node morphology |
ORPHA:677 |
Riddle Syndrome |
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Generalized lymphadenopathy, Pneumonia, Diarrhea, Recurrent pneumonia, Arthritis, Decreased circu... |
ORPHA:420741 |
Ileal Neuroendocrine Tumor |
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Lymphadenopathy, Iron deficiency anemia, Intermittent diarrhea, Episodic vomiting, Nausea |
ORPHA:100078 |
Plague |
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Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Hematemesis, Diarrhea, Ent... |
ORPHA:707 |
Sponastrime Dysplasia |
|
Decreased circulating antibody level, Recurrent pneumonia, Neutropenia |
ORPHA:93357 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,... |
ORPHA:324625 |
Leptospirosis |
|
Pericarditis, Skin rash, Diarrhea, Hepatitis, Uveitis, Lymphadenopathy, Optic neuritis, Thrombocy... |
ORPHA:509 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Lymphadenopathy, Chronic rhinitis, Otitis media, Anemia |
ORPHA:667 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Acne, Neoplasm of the thymus, Leukocytosis, Diarrhea, Recurrent cutaneous fungal infections, Abno... |
ORPHA:99889 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Klatskin Tumor |
|
Lymphadenopathy |
ORPHA:99978 |
African Trypanosomiasis |
|
Pericarditis, Keratitis, Splenomegaly, Myocarditis, Diarrhea, Hepatosplenomegaly, Lymphadenopathy... |
ORPHA:3385 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system,... |
ORPHA:538 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Lymphadenopathy |
ORPHA:424016 |