Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... |
OMIM:607685 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... |
OMIM:615631 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Hepatosplenomegaly, Bilateral single transverse palmar creases, ... |
ORPHA:353298 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
Roifman Syndrome |
|
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventricular septal defect,... |
OMIM:616651 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... |
ORPHA:75566 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:601859 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... |
OMIM:226990 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... |
OMIM:224120 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology |
ORPHA:482 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... |
OMIM:616860 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P... |
OMIM:300835 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Joint contracture of the hand, Hip dislocation, Clubbing |
OMIM:618523 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Omenn Syndrome |
|
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Hypothyroidism, Eo... |
ORPHA:39041 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... |
OMIM:616738 |
Neutropenia, Chronic Familial |
|
Clubbing, Neutropenia, Clubbing of fingers |
OMIM:162700 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia, Hepatomegaly |
OMIM:615387 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... |
OMIM:274000 |
Cinca Syndrome |
|
Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis |
OMIM:607115 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... |
OMIM:258900 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... |
OMIM:304790 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Single transverse... |
OMIM:617425 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Scapular winging |
OMIM:253600 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocy... |
OMIM:603554 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Splenomegaly, ... |
OMIM:602450 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impo... |
OMIM:604250 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Hypothyr... |
OMIM:615952 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231226 |
Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
O'Sullivan-Mcleod Syndrome |
|
Intrinsic hand muscle atrophy, Eosinophilia, Hand muscle weakness |
ORPHA:99965 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Camptodactyly, Rocker bottom foot, Anisocytosis |
OMIM:604273 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Pgm3-Cdg |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... |
ORPHA:443811 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... |
OMIM:301310 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Severe B lymphocytopenia, Abnormal pelvic girdle bone morphology, Gro... |
OMIM:102700 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis |
OMIM:618282 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... |
ORPHA:508533 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the testis size, Abnormal heart morphology, Abscess, Ovarian c... |
ORPHA:400 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly, Hypothyroidism |
OMIM:618999 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Palmoplantar hyperhidrosis |
OMIM:270300 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... |
OMIM:617514 |
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia |
OMIM:620532 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... |
ORPHA:444463 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Palmoplantar hyperkeratosis, Hepato... |
OMIM:617388 |
Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis |
ORPHA:2070 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... |
OMIM:620501 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Cardiom... |
OMIM:618278 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Hereditary Folate Malabsorption |
|
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia |
OMIM:612527 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Hepatomegaly, Auto... |
OMIM:614470 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Tetralogy of Fallot, Ventricu... |
OMIM:618624 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Aspergillosis |
|
Eosinophilia, Abnormal long bone morphology, Neutropenia |
ORPHA:1163 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis, Thyroiditis |
ORPHA:139402 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Immunodeficiency 23 |
|
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia |
OMIM:615816 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Metaphyseal irregularity |
OMIM:269920 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotrop... |
ORPHA:199299 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Cardiomyopath... |
OMIM:300280 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Abnormal pericardium morphology, Eosinophilia, Abnormal spleen morphology, Abn... |
ORPHA:284 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhe... |
OMIM:235200 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Wolfram Syndrome 1 |
|
Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic anemia, Hypothy... |
OMIM:222300 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... |
OMIM:603903 |
Acute Generalized Exanthematous Pustulosis |
|
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia |
ORPHA:293173 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... |
OMIM:602782 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... |
OMIM:243700 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Short foot, Brachydactyly, Neutrophilia |
OMIM:266265 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Eosinophilia, Myocarditis, Endocard... |
ORPHA:183 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Tetragametic Chimerism |
|
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... |
ORPHA:199310 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lympho... |
OMIM:256550 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Anemia |
OMIM:618838 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Thromboc... |
ORPHA:3260 |
Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Bone marrow hypocellularity, Absent thumb, Unilateral radial aplasia, Anemia of i... |
OMIM:614900 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia |
OMIM:616744 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
Mirage Syndrome |
|
Microphallus, Radial club hand, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Le... |
OMIM:617053 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Lymphatic Filariasis |
|
Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Vaginal hydrocele, Hydrocele testis, Ep... |
ORPHA:2035 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly |
OMIM:601163 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... |
OMIM:239850 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Cryptorchidism... |
OMIM:600901 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... |
OMIM:305400 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Male infertility, Abnormal heart morphology, Absent radius, Pancytopen... |
OMIM:227650 |
Coccidioidomycosis |
|
Granuloma, Abnormality of the male genitalia, Abnormality of the spleen, Abscess, Abnormal long b... |
ORPHA:228123 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Eosinophilia |
OMIM:158310 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Cardi... |
ORPHA:465508 |
Incontinentia Pigmenti |
|
Deviation of finger, Finger syndactyly, Supernumerary nipple, Camptodactyly of finger, Abnormal h... |
ORPHA:464 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly |
OMIM:620210 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess |
ORPHA:54251 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia |
OMIM:613987 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Impotence, Cardiomyopathy |
ORPHA:85447 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eosinophilia |
ORPHA:2314 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Abnormal thumb morphology, Mitral valve prolapse, Cardiomegaly, Abnormal a... |
ORPHA:324410 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Secundum atrial septal defect, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukop... |
OMIM:612541 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... |
OMIM:619846 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Ventricular septal de... |
OMIM:616897 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Polycystic ovaries, Del... |
ORPHA:100 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, N... |
ORPHA:508542 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
Incontinentia Pigmenti |
|
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplastic nipples, Eosin... |
OMIM:308300 |
Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Overlapping fingers, Cardiomegaly, Left ventricu... |
ORPHA:79330 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... |
OMIM:613320 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepato... |
ORPHA:3226 |
Mulibrey Nanism |
|
Single transverse palmar crease, Cardiomegaly, Thickened cortex of long bones, Pericardial constr... |
OMIM:253250 |
Cartilage-Hair Hypoplasia |
|
Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Lymphopenia, Femoral bowing, Limited... |
OMIM:250250 |
Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Hypoplasia of the t... |
OMIM:617022 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne... |
OMIM:614868 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenom... |
OMIM:301078 |
Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypothyroidis... |
OMIM:601005 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases |
ORPHA:1116 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Immunodeficiency 114, Folate-Responsive |
|
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:620603 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Short long bone, ... |
OMIM:301110 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Genu valgum, Mitral valve prolapse, Bicuspid aortic valve, Talipes equinovar... |
OMIM:245600 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Elevated circulating thyroid-stimulating hormone concentration, Bilate... |
OMIM:242900 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
Noonan Syndrome 14 |
|
Clinodactyly, Hypertrophic cardiomyopathy, Lymphopenia, Limited elbow extension, Cryptorchidism, ... |
OMIM:619745 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Talipes equinovarus, Neutropenia |
OMIM:619752 |
Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
Sarcoidosis |
|
Enlarged lacrimal glands, Parotitis, Leukopenia, Enlargement of parotid gland, Abnormal reproduct... |
ORPHA:797 |
Igg4-Related Pachymeningitis |
|
Eosinophilia, Parotitis |
ORPHA:449427 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly,... |
ORPHA:158687 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Hypertrophic cardiomyopathy, Abnormal heart va... |
ORPHA:1517 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
Developmental And Epileptic Encephalopathy 95 |
|
Short distal phalanx of finger, Short fourth metatarsal, Cryptorchidism, Single transverse palmar... |
OMIM:618143 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Prostatitis, Abnormality of the anterior pituitary, Eosinophilia, Enlarged kidney, ... |
ORPHA:449395 |
Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Eosinophilia, Enlarge... |
ORPHA:449563 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Bi... |
OMIM:306955 |
Reni Syndrome |
|
Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Micropenis |
OMIM:617575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis |
OMIM:605309 |
Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Neutropenia |
OMIM:620443 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:88 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
2-3 toe syndactyly, Premature ovarian insufficiency, Lymphopenia |
ORPHA:391307 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Hepatomegaly |
OMIM:619644 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy, Clinodactyly, Lymphopenia, Cryptorchidism, Anemia, Hypothyroidism, Limb u... |
OMIM:616541 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Abnormality of the menstrual cycle, Microcytic an... |
ORPHA:906 |
Lymphangiectasia, Intestinal |
|
Lymphopenia |
OMIM:152800 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Ventricular se... |
ORPHA:3472 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia, Bilateral cryptorchidism |
OMIM:616395 |
Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia |
ORPHA:91547 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly, Abscess, Peri... |
OMIM:618935 |
Refsum Disease, Classic |
|
Cardiomegaly, Short fourth metatarsal, Cardiomyopathy |
OMIM:266500 |
Viss Syndrome |
|
Coronary sinus enlargement, Hip dislocation, Hypereosinophilia, Genu valgum, Right ventricular hy... |
OMIM:619472 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... |
ORPHA:3427 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hip dislocation, Hypoplastic scapulae, Varus deformity of hu... |
OMIM:252500 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of ... |
OMIM:243150 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin metatarsal cortices, Small hypothenar eminence, Thin metacarpal cortices, Slender long bone,... |
ORPHA:2463 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Increased T cell count, ... |
OMIM:620376 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:617591 |
Down Syndrome |
|
Secundum atrial septal defect, Polycythemia, Sandal gap, Tetralogy of Fallot, Atrioventricular ca... |
ORPHA:870 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia, Hip dislocation |
OMIM:300322 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Glandular hypospadias, Cardiomegaly, Talipes equinovarus, Short femur |
OMIM:620306 |
Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
Cowden Syndrome 1 |
|
Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism... |
OMIM:158350 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia |
OMIM:616100 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Lymphopenia, Pancytopenia, Leukopenia, Ventricular septal defect, Bicusp... |
OMIM:620654 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Myocarditis, Anemia, Neutrophilia, Hepat... |
ORPHA:829 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly |
OMIM:617713 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Hip dysplasia, Ventricular septal defect |
OMIM:618798 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Cardiomegaly, Long toe, Long fing... |
OMIM:608836 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... |
ORPHA:760 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Small hand, Lymphopenia, Cryptorchidism, Patent foram... |
OMIM:620005 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Hypoplastic scapulae, Finger swelling, Elevated circulating thyroid-stimu... |
OMIM:256040 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:608013 |
Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short iliac bones, Lymphopenia, Metaphyseal sclerosis, T lymphocytopenia, Hypothyroidism, Neutrop... |
OMIM:607944 |
Sweet Syndrome |
|
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Abnormality of the hand, Acute ... |
ORPHA:3243 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Diabet... |
ORPHA:36238 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... |
ORPHA:99889 |
Ogden Syndrome |
|
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Polycythe... |
OMIM:300855 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Anemia, Pericardial effusion, De... |
ORPHA:90362 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, T lymphocytopenia, Impaired lymphoc... |
ORPHA:35078 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil... |
OMIM:613179 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Orchitis, Neutrophilia, Hepatomegaly, Pericarditis |
OMIM:249100 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
Fucosidosis |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Coxa valga |
OMIM:230000 |
Truncus Arteriosus |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... |
ORPHA:3384 |
Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi... |
OMIM:242840 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Limited elbow movemen... |
ORPHA:268 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Naxos Disease |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation |
OMIM:147060 |
Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Impotence, Cardiomyopathy |
OMIM:105210 |
Whim Syndrome |
|
Parotitis, Tetralogy of Fallot, Lymphopenia, Abnormal neutrophil morphology, Neutropenia, Cervix ... |
ORPHA:51636 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Neutrophilia, Hepatomegaly,... |
OMIM:620565 |
Ataxia-Telangiectasia |
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Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Lymphopenia, Hepat... |
OMIM:615688 |
Fucosidosis |
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Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
Abetalipoproteinemia |
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Acanthocytosis, Reticulocytosis, Cardiomegaly, Talipes equinovarus, Anemia, Hypothyroidism, Hepat... |
ORPHA:14 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... |
ORPHA:96191 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Patent fo... |
ORPHA:391487 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... |
OMIM:127550 |
Khan-Khan-Katsanis Syndrome |
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Clinodactyly, Lymphopenia, Patent foramen ovale, Postaxial polydactyly, Neutropenia, Anemia |
OMIM:618460 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Hepatomegaly, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia |
OMIM:617099 |
Syndromic Diarrhea |
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Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, Splenomegaly, Ventricular septal def... |
ORPHA:84064 |
Complete Atrioventricular Septal Defect |
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Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
Immunodeficiency 55 |
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Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Beckwith-Wiedemann Syndrome |
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Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... |
OMIM:130650 |
Danon Disease |
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Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, Talipes equinovarus, Finger joi... |
OMIM:620371 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Congenital Disorder Of Glycosylation, Type It |
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Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Decreased serum insulin-like gro... |
OMIM:614921 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... |
OMIM:600802 |
Carnitine Palmitoyltransferase I Deficiency |
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Hepatomegaly, Cardiomegaly |
OMIM:255120 |
X-Linked Intellectual Disability, Snyder Type |
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Abnormality of the Leydig cells, Cryptorchidism, Arachnodactyly, Slender toe, Long toe, Camptodac... |
ORPHA:3063 |
Mucopolysaccharidosis Type 3 |
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Avascular necrosis of the capital femoral epiphysis, Genu valgum, Splenomegaly, Abnormal aortic v... |
ORPHA:581 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Leukocyte Adhesion Deficiency Type Ii |
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Microcytic anemia, Overlapping toe, Leukocytosis, Anemia, Limb undergrowth, Neutrophilia, Hepatom... |
ORPHA:99843 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
Immunodeficiency 31C |
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Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hypothyroidism, Delayed puberty, Impaired... |
OMIM:614162 |
Charge Syndrome |
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Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, A... |
OMIM:214800 |
Liver Disease, Severe Congenital |
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Pancreatic hypoplasia, Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent for... |
OMIM:619991 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Metacarpophal... |
ORPHA:97297 |
Immunodeficiency 87 And Autoimmunity |
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Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect, Lymphopenia, De... |
OMIM:619573 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
Beckwith-Wiedemann Syndrome |
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Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Adrenocor... |
ORPHA:116 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Aicardi-Goutières Syndrome |
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Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega... |
ORPHA:51 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
Singleton-Merten Syndrome 1 |
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Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Expanded metatarsal... |
OMIM:182250 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
Common Variable Immunodeficiency |
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Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia, Splenomegaly |
ORPHA:1572 |
Congenital Tracheomalacia |
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Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
Hyper-Igd Syndrome |
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Hepatosplenomegaly, Leukocytosis, Splenomegaly, Neutrophilia |
OMIM:260920 |
Steinert Myotonic Dystrophy |
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Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Shoulder girdle muscle weak... |
ORPHA:273 |
Williams Syndrome |
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Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries... |
ORPHA:904 |
Absence Of The Pulmonary Artery |
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Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
Interatrial Communication |
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Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Cardiomegaly, Bicuspid aortic valve, Arachnodactyly |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries |
ORPHA:137675 |
Crimean-Congo Hemorrhagic Fever |
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Neutrophilia, Parotitis, Adrenal insufficiency, Pancytopenia, Leukopenia, Splenomegaly, Leukocyto... |
ORPHA:99827 |
Dermatomyositis |
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Myocarditis, Abnormal eosinophil morphology, Palmar hyperkeratosis, Pericarditis |
ORPHA:221 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:365 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Adrenal calcification, Abnormal hip joint morphology, Pancreatic calcifi... |
ORPHA:51608 |