Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Congenital alopecia totalis, T lymphocytopenia, Nail pits |
ORPHA:169095 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin... |
ORPHA:158048 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thromboc... |
OMIM:614470 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Delayed femoral head ossification, Enlarged tonsils, Multicentric femoral head ossi... |
ORPHA:168621 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... |
ORPHA:158057 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... |
OMIM:616050 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Autoimmunity, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alph... |
OMIM:601859 |
Immunodeficiency 20 |
|
Reduced natural killer cell count |
OMIM:615707 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia, Abnormal hair quantity |
ORPHA:1116 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hypocellula... |
OMIM:616871 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:603909 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Alopecia, Decreased proportion of CD3-positive T cells, Hepatosplen... |
ORPHA:169154 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Nail dystrophy, Alopecia, Decreased helper T cell proportion, T lymphocytopenia, Nai... |
OMIM:601705 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Alop... |
OMIM:603554 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia, Conjunctivitis |
ORPHA:26137 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... |
OMIM:607115 |
Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... |
OMIM:619510 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly, Reduced natural kille... |
OMIM:609981 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Nail dystrophy, T lymphocytopenia |
OMIM:618806 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Antineutrophil antibody positiv... |
ORPHA:486 |
Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Hypo... |
ORPHA:398063 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Spotty hyperpigmentation, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Autoimmunity, Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Immunodeficiency 25 |
|
Antimitochondrial antibody positivity, Smooth muscle antibody positivity, Eosinophilia, T lymphoc... |
OMIM:610163 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, E... |
OMIM:619644 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Melanocytic nevus, Decreased ... |
ORPHA:3319 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Hypopigmentation of the skin, Osteopenia, Splenomegaly, Con... |
OMIM:269920 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Autoimmunity, Decreased proportion of class-switched memory... |
OMIM:615559 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Lym... |
ORPHA:277 |
Immunodeficiency 7 |
|
Lymphadenopathy, Autoimmunity, Hypereosinophilia |
OMIM:615387 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... |
ORPHA:90041 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Neutropenia, Ocular albinism, Aberrant melanosome maturation, Enlarged platelet den... |
OMIM:608233 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
Immunodeficiency 49 |
|
Eosinophilia, Hirsutism, Lymphopenia |
OMIM:617237 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatitis, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinop... |
ORPHA:169160 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... |
OMIM:613673 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Autoimmunity, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia... |
ORPHA:39041 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc... |
ORPHA:2070 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... |
OMIM:237800 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia, Hyperpigmented streaks |
OMIM:614323 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased glucose-6-p... |
OMIM:300908 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Autoimmunity, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Systemic lupus eryth... |
ORPHA:158061 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy |
OMIM:618982 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... |
OMIM:612541 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Developmental cataract, Leukocyte inclusion bodies, Giant platelets,... |
OMIM:153640 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Kyphosis, Giant platelets, Thrombocytopenia, ... |
OMIM:169400 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Abnormal proportion of CD8-positive T cells, L... |
ORPHA:443811 |
Myh9-Related Disease |
|
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets... |
ORPHA:182050 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Abnormal lymphatic vessel morphology, Anemia, Hypocalcemia, Reduced proportion o... |
ORPHA:90362 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis |
OMIM:610680 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... |
OMIM:267700 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Elevated circulating creatine kinase concentration, Eosinophilia |
OMIM:253600 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Autoimmunity, Hypereosinophilia, Elevated circulating C-reactive protein concentration |
ORPHA:2902 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia, Conjunctivitis |
OMIM:601457 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Lymphadenopathy, Hepatitis, Systemic lupus erythematosus, Splenomegaly, Autoimmune ... |
ORPHA:444463 |
X-Linked Lymphoproliferative Disease |
|
Autoimmunity, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Increased circulating f... |
ORPHA:2442 |
Hepatoportal Sclerosis |
|
Leukopenia, Hepatocellular carcinoma, Anticardiolipin IgM antibody positivity, Anticardiolipin Ig... |
ORPHA:64743 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Cervical instability, Kyphoscoliosis, Hepatic cysts, Platyspondyly, Lymphopenia, Delayed ossifica... |
OMIM:617425 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Craniosynostosis, Keratitis, Scoliosis, Eosinophilia, Thoracolumbar scoliosis |
OMIM:618523 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Absent tonsils, Abnormality of the tonsils, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:611926 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Lymphadenopathy, Elevated circulating creatinine concentration, ... |
ORPHA:29073 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... |
OMIM:619271 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Craniosynostosis, Scoliosis, Osteopenia |
OMIM:147060 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia |
OMIM:243700 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... |
OMIM:607624 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Small nail, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Po... |
OMIM:615631 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia, Alopecia |
OMIM:618282 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Platyspondyly, Splen... |
OMIM:102700 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow |
OMIM:618092 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Syndromic Diarrhea |
|
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality of iron homeostasis, He... |
ORPHA:84064 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonem... |
ORPHA:1667 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... |
OMIM:603553 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Leukopenia |
ORPHA:99828 |
Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice |
OMIM:234350 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
B lymphocytopenia, Hypertrichosis, Hyperpigmentation of the skin, Osteopenia, Reduced natural kil... |
ORPHA:221139 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Prominent eyelashes, Lymphadenopathy, Hepatospl... |
ORPHA:353298 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... |
OMIM:617514 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy |
OMIM:617718 |
Immunodeficiency 68 |
|
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Roifman Syndrome |
|
Hepatomegaly, Prominent eyelashes, Lymphadenopathy, Irregular vertebral endplates, Splenomegaly, ... |
OMIM:616651 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Autoimmunity, Lymphocytosis, Generalized hirsutism |
ORPHA:79087 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... |
OMIM:600802 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Immunodeficiency 23 |
|
Neutropenia, Abscess, Rheumatoid factor positive, Lymphopenia, Eosinophilia, Hemolytic anemia, Sc... |
OMIM:615816 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anti-glutamic acid decarboxylase antibody positivity, Neutropenia, Coombs-positive hemolytic anem... |
OMIM:304790 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... |
ORPHA:3261 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Corneal neovascularization, Punctate keratitis, Splenom... |
OMIM:617388 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Autoimmunity, Neutropenia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:572 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly... |
OMIM:259720 |
Cyclic Neutropenia |
|
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... |
ORPHA:2686 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Splenomega... |
ORPHA:231154 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis |
ORPHA:90064 |
Eosinophilopenia |
|
Autoimmunity, Decreased eosinophil count |
OMIM:131430 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hyperpigmentation ... |
ORPHA:35078 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... |
OMIM:601775 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Immunodeficiency 31C |
|
Autoimmunity, Lymphopenia, Osteopenia, Autoimmune hemolytic anemia |
OMIM:614162 |
Igg4-Related Aortitis |
|
Autoimmunity, Cytoplasmic antineutrophil antibody positivity, Hypereosinophilia, Elevated circula... |
ORPHA:449400 |
Chédiak-Higashi Syndrome |
|
Neutropenia, Abnormal platelet function, Lymphadenopathy, Splenomegaly, Increased circulating fer... |
ORPHA:167 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hyperpigmentation of the ... |
OMIM:618892 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Selective Igm Deficiency |
|
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Lymphadeniti... |
ORPHA:331235 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Hyperpigmentation of the skin, Anemia, Elevated transferrin sa... |
OMIM:604250 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Autoimmunity, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulat... |
OMIM:613011 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Hyperpigmentation of the skin, Splenomegaly, Hemolytic anemia, O... |
ORPHA:79277 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity |
OMIM:617006 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia |
OMIM:247800 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypo... |
OMIM:300400 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Hepatomegaly, Absence of lymph node germinal center, Anemia, Jaundice, Hepat... |
ORPHA:79124 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Mediastinal lymphadenopathy,... |
OMIM:618534 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Leukocytosis, Fine hair, Hypoplastic nipples, Sparse hair, Hemivertebr... |
OMIM:308300 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Cystic Echinococcosis |
|
Abnormality of the vertebral column, Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, B... |
ORPHA:400 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Hypoplasia of the odontoid process, Increased intervertebral space, Cervical instab... |
ORPHA:508533 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphadenopathy, Eosinophilia, Lymphocytosis, Hepatitis |
ORPHA:139402 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Rheumatoid... |
OMIM:209950 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity |
OMIM:618795 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin |
OMIM:614072 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Neutropenia, Hypopigmented skin patches on arms, Increased intervertebral space, Ir... |
OMIM:607944 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... |
ORPHA:543 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Lymphopenia, Lupus anticoagulant, Hemolytic anemia, Antinuclear antibody positi... |
OMIM:616744 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Abnormality o... |
OMIM:222470 |
Immunodeficiency 82 With Systemic Inflammation |
|
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... |
OMIM:619381 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration, Hyperbilirubinemia |
ORPHA:713 |
Ataxia-Telangiectasia |
|
Lymphopenia, Aplasia/Hypoplasia of the thymus, Multiple cafe-au-lait spots, Hypopigmentation of h... |
ORPHA:100 |
Aspergillosis |
|
Abnormality of the vertebral column, Neutropenia, Hepatitis, Keratitis, Eosinophilia |
ORPHA:1163 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased proportion of CD4+CD25+ regulator... |
OMIM:606367 |
Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... |
OMIM:607330 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... |
OMIM:616278 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased bone mineral density |
ORPHA:37748 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hypouricemia, Autoimmunity, Systemic lupus erythematosus, Decreased p... |
ORPHA:760 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly |
OMIM:611762 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia |
ORPHA:90045 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Rheumatoid factor positive, Anti-thyroglobulin antibody positivity... |
OMIM:619632 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Positive direct anti... |
ORPHA:71275 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Dystrophic fingernails, Craniosynostosis, Osteopenia, Paronychia, Eosin... |
ORPHA:2314 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Generalized bone demineralizat... |
ORPHA:199299 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,... |
OMIM:232800 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoproteinemia, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Autoimmunity, Megaloblastic anemia, Lymphopenia, Pancytopenia,... |
OMIM:617780 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Alopecia, Neoplasm of the pancreas, Osteopenia, Hepatic steatosis, Microcyti... |
ORPHA:2959 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Fine hair, Opacification of the corneal stroma, Neutropenia, Coarse h... |
OMIM:242900 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Stomatocyt... |
ORPHA:288 |
Netherton Syndrome |
|
Brittle hair, Sparse scalp hair, Hypereosinophilia, Brittle scalp hair, Sparse and thin eyebrow |
OMIM:256500 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia, Hepatic cysts, Eosinophilic liver infiltration |
OMIM:618999 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarc... |
ORPHA:480520 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Partial albinism, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Iris ... |
ORPHA:79477 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoie... |
ORPHA:822 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular ... |
ORPHA:231226 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... |
OMIM:235700 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Takenouchi-Kosaki Syndrome |
|
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Thrombocytopenia, Scoliosi... |
OMIM:616737 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Conjunctivitis |
OMIM:120100 |
Leptospirosis |
|
Conjunctival hyperemia, Hepatomegaly, Hyperproteinemia, Lymphadenopathy, Hepatitis, Thrombocytope... |
ORPHA:509 |
Scleroderma |
|
Autoimmunity, Spotty hypopigmentation, Elevated circulating creatine kinase concentration, Alopec... |
ORPHA:801 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity |
ORPHA:98827 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Leukocytosis, Elevated circulating C-reactive protein concentration, Conj... |
OMIM:191900 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... |
OMIM:251880 |
Alveolar Echinococcosis |
|
Cholangitis, Biliary cirrhosis, Bone cyst, Pancreatic cysts, Abnormality of mesentery morphology,... |
ORPHA:284 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic monilial nail infection, Nail dystrophy, Alopecia, Coarse hair, Nail dysplasia, Cataract,... |
OMIM:158310 |
Cartilage-Hair Hypoplasia |
|
Fine hair, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Sparse ... |
OMIM:250250 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:616649 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Spinal canal stenosis, Lymphopenia |
OMIM:618624 |
Ataxia-Telangiectasia |
|
Abnormal hair morphology, Leukemia, Hypoplasia of the thymus, Conjunctival telangiectasia, Elevat... |
OMIM:208900 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Elevated circulating creatinine c... |
ORPHA:90060 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... |
OMIM:182900 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:101096 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Abnormal lymphocyte morphology |
OMIM:609529 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Sparse hair, Leukopenia, Nail dystrophy, Paratracheal lymphadenopathy, Anemia, Rh... |
OMIM:615934 |
Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Abnormality of thrombocytes, Lymphadenopathy, Anemia, Abnormal granul... |
ORPHA:1451 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... |
ORPHA:514 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Increa... |
OMIM:613280 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... |
OMIM:185000 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Increased circulating ferritin concentration, Congenital thr... |
OMIM:618886 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Spondylitis, Decreased propo... |
OMIM:619375 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepa... |
ORPHA:231222 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithi... |
ORPHA:848 |
Griscelli Syndrome |
|
Hypopigmented skin patches, Hepatomegaly, Leukopenia, Silver-gray hair, Lymphadenopathy, Abnormal... |
ORPHA:381 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal circulating... |
ORPHA:86839 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmunity, Systemic lupus erythematosus, Increased total bilirubin, Autoimmune hemolytic anemia |
ORPHA:90036 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Incontinentia Pigmenti |
|
Hypopigmented skin patches, Broad nail, Abnormal hair morphology, Dystrophic toenail, Abnormality... |
ORPHA:464 |
Thymic Aplasia |
|
Autoimmunity, Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolyt... |
ORPHA:83471 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... |
ORPHA:90038 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T c... |
OMIM:301045 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Immunodeficiency 22 |
|
Autoimmunity, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Caroli Disease |
|
Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Sp... |
ORPHA:53035 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia, Alopecia, Anemia, Abnormal hair pattern, Abnormality of the pancreas, Exocrine p... |
ORPHA:2315 |
Fumarase Deficiency |
|
Polycythemia, Cholestasis, Hyperbilirubinemia |
OMIM:606812 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... |
ORPHA:79303 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Pancreatitis, Abnormality of the cervical spine, Eosinophilia, Elevated circulatin... |
ORPHA:449427 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... |
OMIM:612840 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... |
ORPHA:86843 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... |
OMIM:266200 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... |
OMIM:109270 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Iga Pemphigus |
|
Autoimmune antibody positivity, Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Tularemia |
|
Brain abscess, Leukocytosis, Conjunctival hyperemia, Mediastinal lymphadenopathy, Lymphadenopathy... |
ORPHA:3392 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hashimoto thyroiditis, Hyponatremia |
ORPHA:83601 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Myelofibrosis, Ane... |
ORPHA:3260 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Pancreatic cysts, Anemia, Fused cervical vertebrae, Hepatosplenomegaly, Thrombocyto... |
OMIM:274000 |
Cholestasis-Lymphedema Syndrome |
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Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... |
OMIM:214900 |
Immunodeficiency 37 |
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Decreased proportion of central memory CD4-positive, alpha-beta T cells |
OMIM:616098 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat... |
OMIM:617099 |
Sarcoidosis |
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Portal hypertension, Hepatomegaly, Hypercalcemia, Bone cyst, Keratoconjunctivitis sicca, Leukopen... |
ORPHA:797 |
Abetalipoproteinemia |
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Keratoconjunctivitis sicca, Hepatomegaly, Abnormality of retinal pigmentation, Decreased HDL chol... |
ORPHA:14 |
Graft Versus Host Disease |
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Lymphadenopathy, Hyperbilirubinemia, Acute hepatitis, Hepatosplenomegaly, Chronic hepatitis, Hemo... |
ORPHA:39812 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Herpes Simplex Virus Encephalitis |
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Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia |
ORPHA:1930 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... |
OMIM:616959 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Eosinophil Peroxidase Deficiency |
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Abnormal eosinophil morphology |
OMIM:261500 |
Chediak-Higashi Syndrome |
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Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Silver-gray hair, Abnorm... |
OMIM:214500 |
Congenital Disorder Of Glycosylation, Type Iif |
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Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Immunodeficiency 92 |
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Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Increa... |
OMIM:613179 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... |
ORPHA:247598 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Isolated Agammaglobulinemia |
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Autoimmunity, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system, Abnorma... |
ORPHA:229717 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Hepatocellular necrosis, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Re... |
OMIM:618278 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... |
ORPHA:274 |
Livedoid Vasculopathy |
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Leukocytosis, Hyperhomocystinemia, Autoimmunity, Polycythemia, Abnormal circulating lipid concent... |
ORPHA:542643 |
Macrocephaly/Autism Syndrome |
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Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
Caspase 8 Deficiency |
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Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Myopathy With Extrapyramidal Signs |
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Leukocytosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypervalinemia, E... |
OMIM:615673 |
Eosinophilic Granulomatosis With Polyangiitis |
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Hypopigmented skin patches, Autoimmunity, Eosinophilia |
ORPHA:183 |
Yellow Fever |
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Leukocytosis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine... |
ORPHA:99829 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Kyphoscoliosis, Scoliosis, Lymphopenia, Synophrys |
ORPHA:391307 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Autoimmunity, Vitiligo, Decreased proportion of CD3-positive T cells, Juvenile rheumatoid arthrit... |
ORPHA:275 |
Agammaglobulinemia 1, Autosomal Recessive |
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B lymphocytopenia, Neutropenia, Conjunctivitis |
OMIM:601495 |
Aggressive Systemic Mastocytosis |
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Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Osteoporosis, Anemia, Abn... |
ORPHA:98850 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, Autoimmunity, Lymphopenia, Splenomegaly |
OMIM:616005 |
Delta-Beta-Thalassemia |
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Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Onychotrichodysplasia And Neutropenia |
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Chronic neutropenia, Neutropenia, Curly eyelashes, Sparse pubic hair, Trichorrhexis nodosa, Chron... |
OMIM:258360 |
Angiostrongyliasis |
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Hypereosinophilia |
ORPHA:74 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Autoimmunity, Neutropenia, Hyperlipidemia, Anemia, Bon... |
ORPHA:1830 |
Paroxysmal Nocturnal Hemoglobinuria |
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Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... |
ORPHA:447 |
Allergic Bronchopulmonary Aspergillosis |
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Abnormal eosinophil morphology, Abnormal fingernail morphology |
ORPHA:1164 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Nijmegen Breakage Syndrome |
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B lymphocytopenia, Progressive vitiligo, Autoimmune hemolytic anemia, Thrombocytopenia, T lymphoc... |
OMIM:251260 |
Mevalonic Aciduria |
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Fluctuating splenomegaly, Leukocytosis, Nuclear cataract, Normocytic hypoplastic anemia, Lymphade... |
OMIM:610377 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia |
ORPHA:1302 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Sparse hair, Ridged nail, Reticular hyperpigmentation, Osteoporosis, Anemia, Bone marrow hypocell... |
OMIM:127550 |
Alpha-Thalassemia |
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Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Primary Myelofibrosis |
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Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Congenital Enterovirus Infection |
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Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Hyperammonemia, Abnormal macrophage mor... |
ORPHA:292 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Elliptocytosis 2 |
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Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Chronic Bilirubin Encephalopathy |
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Abnormal conjunctiva morphology, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal conjunctiva morphology, Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus... |
ORPHA:529799 |
Adult-Onset Still Disease |
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Leukocytosis, Hepatomegaly, Abnormal circulating lipid concentration, Hepatitis, Bone marrow hypo... |
ORPHA:829 |
Psoriasis 14, Pustular |
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Leukocytosis, Cholangitis, Nail dystrophy, Neutrophilia, Elevated circulating C-reactive protein ... |
OMIM:614204 |
Hemoglobin E Disease |
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Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Chronic Myeloid Leukemia |
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Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Highly arched eyebrow, Increased mean platelet volume, Abnormality of the lymphatic system, Spars... |
ORPHA:487796 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:66628 |
Nephrotic Syndrome, Type 14 |
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Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia |
OMIM:617575 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Fine hair, White hair, Anemia, Reduced bone mineral density, Abnormality of the pancreas, Lymphop... |
ORPHA:935 |
Erythrocytosis, Familial, 1 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Wiskott-Aldrich Syndrome |
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Autoimmunity, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, ... |
ORPHA:906 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Leukocytosis |
ORPHA:206594 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:179494 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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