Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Restrictive cardio... |
OMIM:607685 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Pigmentary retinopathy, Neutropenia |
OMIM:266130 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Thromb... |
OMIM:598500 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Retinal dystrophy, Ventricular septal defect, Eosinophilia, Splenom... |
OMIM:616651 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Increased blood urea nitrogen, H... |
OMIM:614817 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Right ventricular dilatation, B lymphocyto... |
OMIM:619705 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Retinal dystrophy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellularity, Neutrop... |
ORPHA:88 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess |
OMIM:618282 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... |
OMIM:301078 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Optic atrophy, Anemia, Neutropenia |
ORPHA:289916 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lymphocytosis |
ORPHA:79087 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... |
OMIM:308240 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes |
ORPHA:464370 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia |
OMIM:618067 |
Necrotizing Enterocolitis |
|
Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia... |
ORPHA:391673 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener... |
OMIM:520000 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Aspergillosis |
|
Vitritis, Eosinophilia, Neutropenia |
ORPHA:1163 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Leukopenia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora... |
OMIM:614868 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a... |
OMIM:216550 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Chorioretinitis, Optic neuritis, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Propionic Acidemia |
|
Pancytopenia, Hypoglycemia, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
OMIM:606054 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Hypoglycemia, Neutropenia |
OMIM:618253 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Dilated cardiomyopathy, Abnormal h... |
ORPHA:398124 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Barth Syndrome |
|
Cyclic neutropenia, Dilated cardiomyopathy, Neutropenia, Hypochromic microcytic anemia, Granulocy... |
OMIM:302060 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Anemia, Leukopen... |
ORPHA:292 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Abnormal heart morphology, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
3-Methylglutaconic Aciduria Type 7 |
|
Cardiomyopathy, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Neona... |
ORPHA:445038 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Retinal vascular proliferation, Leukoc... |
OMIM:308300 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Bone marrow hypocellularity, Neutropenia, Atri... |
OMIM:609053 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocarditis, Hypertrophic cardiomyop... |
ORPHA:183 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Ocular al... |
OMIM:214500 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Felty Syndrome |
|
Pericarditis, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte... |
ORPHA:47612 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Neutropenia,... |
ORPHA:1667 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Bone marrow hypocellularity, N... |
OMIM:613989 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood urea nitrogen... |
ORPHA:94088 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Type I diabetes mellitus |
ORPHA:199299 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal optic nerve morph... |
ORPHA:3226 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... |
OMIM:612562 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Optic atrophy, Anemia, Leukopenia, Chorioretinal hypopigmentation, Bone marrow hypo... |
OMIM:617303 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Eosinophilia |
OMIM:158310 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... |
ORPHA:508542 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:47 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... |
OMIM:617052 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal pericardium morphology, Abnormal spleen morphology, Anemia,... |
ORPHA:284 |
Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Retinal vascular proliferati... |
ORPHA:464 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Hypoglycemia, Neutropenia |
OMIM:618005 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Dextrocardia, Megaloblastic anemia, Anemia, Neutropenia, Atrial septal defect, Thro... |
OMIM:277380 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, Mitral valve prolapse, T lymphoc... |
ORPHA:508533 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocy... |
OMIM:612541 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Vici Syndrome |
|
Atrial septal defect, Left ventricular hypertrophy, Macular atrophy, Dilated cardiomyopathy, Ocul... |
OMIM:242840 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated cardiomyopathy,... |
ORPHA:3260 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypoglycemia, Macular coloboma, Megaloblastic anemia, Dilated cardiomyopathy, Optic atrophy, Abno... |
ORPHA:79282 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Ocular albinism, Hepatospl... |
OMIM:608233 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Abnormal heart morphology, Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... |
ORPHA:1830 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Neutropenia, Microcytic anemia |
OMIM:251900 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Increa... |
OMIM:612925 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Ocular albinism, Neutropenia |
OMIM:617050 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Persistence of hemoglobin F, Anemia, N... |
OMIM:260400 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Optic at... |
ORPHA:193 |
Igg4-Related Pachymeningitis |
|
Abnormal optic nerve morphology, Eosinophilia |
ORPHA:449427 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Pericardial eff... |
ORPHA:167 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Increased blood urea nitrogen, Acute k... |
OMIM:612924 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
ORPHA:540 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... |
OMIM:227645 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Atrial septal ... |
OMIM:274000 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Increased blood urea nitrogen, Acute k... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Increased blood urea nitrogen, Acute k... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Increased blood urea nitrogen, Acute k... |
OMIM:612926 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormal retinal morphology, Abnormality of the spleen, Granuloma, N... |
ORPHA:228119 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hypoglycemia, Lipemia retinalis, Neutropenia |
OMIM:232220 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Coccidioidomycosis |
|
Pericarditis, Eosinophilia, Abscess, Abnormal retinal morphology, Abnormality of the spleen, Gran... |
ORPHA:228123 |
Leigh Syndrome |
|
Ventricular septal defect, Hypoglycemia, Optic atrophy, Abnormal optic nerve morphology, Neutrope... |
ORPHA:506 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Neutropenia |
OMIM:615471 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy, Neutropenia, Lymphopenia, Patent foramen ovale, Anemia |
OMIM:618460 |
Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Type I diab... |
OMIM:557000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... |
ORPHA:37042 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Trichothiodystrophy |
|
Ventricular septal defect, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, M... |
ORPHA:33364 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... |
ORPHA:85450 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Myocarditis, Bone marrow hypocellularity |
ORPHA:829 |
Agammaglobulinemia, X-Linked |
|
Cor pulmonale, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia |
OMIM:300755 |
Whim Syndrome |
|
Lymphopenia, Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Splenomegaly, Abnormal heart morphology, Anemia... |
ORPHA:699 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Hermansky-Pudlak Syndrome |
|
Cardiomyopathy, Ocular albinism, Abnormal optic nerve morphology, Neutropenia |
ORPHA:79430 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Bone marrow hypocellularity, ... |
OMIM:227646 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis |
OMIM:232500 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Tropical Endomyocardial Fibrosis |
|
Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Ventricular septal defect, Double outlet right ventricle, ... |
ORPHA:163956 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... |
ORPHA:500095 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Retinal coloboma, Mitral valve prolapse |
OMIM:617107 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia |
ORPHA:449432 |
Toxic Epidermal Necrolysis |
|
Abnormal myocardium morphology, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Cardiomyopathy, Abnormal cardiac septum morphology, Neutrope... |
ORPHA:175 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Zygomycosis |
|
Brain abscess, Pericarditis, Diabetes mellitus, Retinal detachment, Myocarditis, Endocarditis, Re... |
ORPHA:73263 |
Igg4-Related Ophthalmic Disease |
|
Abnormal optic nerve morphology, Eosinophilia |
ORPHA:449563 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Insulin-Resistance Syndrome Type B |
|
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... |
ORPHA:2298 |
Kikuchi-Fujimoto Disease |
|
Splenomegaly, Myocarditis, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Optic nerve compression, Leukocytosis, Decreased e... |
ORPHA:96253 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:2909 |
Sarcoidosis |
|
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:797 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neonatal hypoglycemia, Neutropenia |
OMIM:617248 |
Glycogen Storage Disease Ic |
|
Hypoglycemia, Cyclic neutropenia |
OMIM:232240 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221008 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia |
ORPHA:449395 |
Pediatric-Onset Graves Disease |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia |
ORPHA:525731 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
Viss Syndrome |
|
Retinal detachment, Ventricular septal defect, Coronary sinus enlargement, Hypereosinophilia, Mit... |
OMIM:619472 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy |
OMIM:260920 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Chronic neutropenia, Hypoglycemic seizures, Abnormal myeloid leukocyte morphology, ... |
ORPHA:79259 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu... |
ORPHA:3243 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess |
OMIM:612852 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Type I diabetes mellitus, Histi... |
ORPHA:171 |
Familial Mediterranean Fever |
|
Splenomegaly, Leukocytosis, Neutrophilia, Pericarditis |
OMIM:249100 |
Dermatomyositis |
|
Myocarditis, Pericarditis, Abnormal eosinophil morphology |
ORPHA:221 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Impaired glucose tolerance, Leukocytosis, Decreased eosinophil count, Lymphopenia |
ORPHA:99889 |
Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
Liver Disease, Severe Congenital |
|
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Thrombocytopenia, Splenomegaly,... |
OMIM:619991 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
Sponastrime Dysplasia |
|
Neutropenia |
ORPHA:93357 |