Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure |
ORPHA:46532 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia |
ORPHA:3319 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Short stature, Neutropenia |
OMIM:616022 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Short stature, Neutropenia |
ORPHA:90023 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner... |
ORPHA:848 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy |
OMIM:619302 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Intrauterine growth retardation,... |
OMIM:619751 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... |
OMIM:611590 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Gout, Neutropenia, Intrauterine growth retardation, Anemia |
OMIM:617056 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... |
OMIM:616738 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility |
ORPHA:2582 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Short stature, Neutropenia |
OMIM:610798 |
Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
OMIM:617243 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... |
ORPHA:882 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Death in infancy, Anemia, Death in childhood, Ne... |
OMIM:617475 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Growth delay, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Growth delay, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Eosinophilic Fasciitis |
|
Arthritis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Growth delay, Arthritis, Anemia |
OMIM:607115 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocyt... |
OMIM:301078 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Splenom... |
OMIM:211600 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:601859 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Short stature, Neutropenia |
OMIM:618752 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia |
OMIM:618839 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Neutropenia |
ORPHA:2643 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, Abnormality of the l... |
ORPHA:2169 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Flexion co... |
ORPHA:85212 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Arthritis, Coombs-positive hemolyti... |
OMIM:304790 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Flexion contracture, Prolonged G2 phase of cell cycle, Reticulocytop... |
OMIM:227645 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Short stature,... |
OMIM:260400 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... |
OMIM:150550 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Increased mean corpuscular volume, ... |
OMIM:612561 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Death in infancy, Cholestasis, Anemia, Decreased liver function, Camptodactyly, Neo... |
OMIM:608104 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... |
OMIM:224120 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:603909 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Throm... |
OMIM:606054 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthriti... |
ORPHA:47612 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... |
OMIM:308240 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutrop... |
OMIM:600901 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Joint hypermobility, Pancre... |
OMIM:617052 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hypermobility, Cutaneous a... |
OMIM:147060 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Short stature, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutrop... |
OMIM:227650 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Growth delay, Increased mean corpuscular volume, Neu... |
OMIM:612562 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, HbH hemoglobin, Short stature, Microcytic anemia |
ORPHA:98791 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Tooth... |
ORPHA:2686 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Roifman Syndrome |
|
Hip contracture, Hepatomegaly, Short stature, Eosinophilia, Postnatal growth retardation, Splenom... |
OMIM:616651 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Short stature, Hepatitis, Anemia, Arthritis... |
ORPHA:47 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Roifman Syndrome |
|
Hip contracture, Short stature, Eosinophilia, Postnatal growth retardation, Delayed proximal femo... |
ORPHA:353298 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ... |
ORPHA:171 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone ma... |
OMIM:613989 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Diamond-Blackfan Anemia 11 |
|
Short stature, Anemia of inadequate production, Radioulnar synostosis, Bone marrow hypocellularit... |
OMIM:614900 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Death in infancy, Short stature, Death in childhood, Neutropenia... |
OMIM:617941 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... |
ORPHA:98870 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Postnatal growth retardation, Os... |
OMIM:212750 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomegaly, Hepatic cysts |
OMIM:618999 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Short stature, Joint hypermobility |
OMIM:617101 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Intrauterine growth retardation, HbH hemoglobin, Short stature, Prolonged neonatal jaundice |
ORPHA:423479 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Eosinophilia, Craniosynostosis |
OMIM:618523 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leukopenia, Neutrop... |
ORPHA:292 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Jaundice, Grow... |
ORPHA:1667 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Growth delay, Iron deficiency anemia, Exocrine pancreatic in... |
ORPHA:309031 |
Abcd Syndrome |
|
Neonatal death, Polycythemia |
OMIM:600501 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Growth delay, Reduced number of intrahepatic bile ducts, Neutropenia, Intra... |
ORPHA:79284 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Eosinophilia |
OMIM:253600 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P... |
ORPHA:811 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Short stature, Elevated hepatic transam... |
OMIM:613658 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Wilson Disease |
|
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Osteomalacia, Joint hypermobility, Elevate... |
OMIM:277900 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251110 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Disproportionate short-trunk short stature, Abnormal T cell morphology,... |
OMIM:242900 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Anemia, Cholestatic liver di... |
ORPHA:540 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Short stature, Osteomalacia, Rickets |
OMIM:193100 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... |
ORPHA:400 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Abse... |
OMIM:250250 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia |
OMIM:613280 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Hepatitis, Chole... |
ORPHA:562 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri... |
OMIM:617827 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Osteoporosis, Rickets, Death in adolescence, Death in childhood |
OMIM:560000 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Short stature, Prolonged G2 phase of cell cycle, Reticulocytopenia, Annular pancrea... |
OMIM:227646 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... |
ORPHA:508542 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangiti... |
OMIM:308230 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun... |
OMIM:619752 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Flexion contracture, Growth delay, Leukopenia, Neutropenia, Intrauterine growth retar... |
OMIM:616271 |
Pgm3-Cdg |
|
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Short... |
ORPHA:443811 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Short stature, Megaloblastic anemia, Anemia, Neutropenia, Thrombocyto... |
OMIM:277380 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Growth delay |
OMIM:617388 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Thrombocytopenia, Disproportionate short-trunk short stature, Growth delay, Decrea... |
ORPHA:1830 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... |
ORPHA:169160 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Death in childhood, Macroves... |
OMIM:617303 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Eosinophilia, Disproportionate short stature, Delayed ossification of carpal bo... |
OMIM:617425 |
Hypophosphatemic Bone Disease |
|
Short stature, Osteomalacia, Rickets |
OMIM:146350 |
Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia |
OMIM:109130 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia |
OMIM:302060 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Peeling Skin Syndrome 1 |
|
Short stature, Eosinophilia |
OMIM:270300 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... |
ORPHA:2330 |
Autosomal Agammaglobulinemia |
|
Arthritis, Osteomyelitis, Hepatitis, Neutropenia |
ORPHA:33110 |
Lead Poisoning |
|
Miscarriage, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, D... |
ORPHA:330015 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic ... |
ORPHA:2088 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:251100 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... |
ORPHA:99867 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Intrauterine growth retardation, Neutropenia |
OMIM:618253 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... |
ORPHA:124 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Neutropenia, Intrauterine growth retardation, Joint contracture |
OMIM:618005 |
Trichothiodystrophy 3, Photosensitive |
|
Intrauterine growth retardation, Lymphopenia, Short stature, Neutropenia |
OMIM:616395 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300554 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:600081 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Short stature, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Anemia |
ORPHA:847 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular c... |
OMIM:232220 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi... |
OMIM:243700 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Neutropenia |
ORPHA:293173 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:241530 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth dela... |
ORPHA:18 |
Cohen Syndrome |
|
Short stature, Neutropenia, Leukopenia, Delayed puberty, Joint hypermobility |
OMIM:216550 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Eosinophilia, Cutaneous abscess, Joint hypermobility, Sterile abscess |
OMIM:618282 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Fused cervical vertebrae, Bone marrow hypocellularity, Neutropenia, Intrauterine g... |
OMIM:609053 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia, Joint hypermobility |
OMIM:615816 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Short stature, Osteomalacia, Reduced bone mineral density, Growth delay, Hypophosphatemic rickets... |
ORPHA:157215 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure,... |
ORPHA:93160 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Growth delay, Bone marrow hypocellularity, Infection associated ne... |
ORPHA:445038 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally lo... |
OMIM:602450 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Neutropenia, Microcytic anemia |
OMIM:251900 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Poikiloderma With Neutropenia |
|
Joint laxity, Short stature, Joint stiffness, Splenomegaly, Growth delay, Leukopenia, Neutropenia |
OMIM:604173 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Eosinophilia, Autoimmune thrombocytop... |
ORPHA:3261 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, Neutropenia... |
ORPHA:90051 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia |
OMIM:209920 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o... |
OMIM:105650 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... |
ORPHA:2176 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Rickets |
OMIM:602722 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Aspergillosis |
|
Osteomyelitis, Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:264700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... |
ORPHA:289157 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... |
OMIM:277440 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyp... |
ORPHA:1901 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Joint hyperflexib... |
ORPHA:2314 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno... |
OMIM:608233 |
Dent Disease 1 |
|
Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Spars... |
OMIM:300009 |
Fanconi Renotubular Syndrome 3 |
|
Growth delay, Short stature, Rickets |
OMIM:615605 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Cystinosis |
|
Short stature, Rickets, Portal hypertension, Delayed puberty |
ORPHA:213 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Short stature, Chronic neutropenia, Hepatocellular carcinoma, Osteoporo... |
ORPHA:79259 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, B lymphocytopenia, Neutropeni... |
OMIM:300755 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Osteoarthritis, Rickets, Hypophosphatemic rickets |
OMIM:307800 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Generalized bone demineralization |
ORPHA:199299 |
Saul-Wilson Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neutropenia |
OMIM:618150 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Reduced bone min... |
ORPHA:2909 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Neutropenia, Intrauterine growth retardation, Joint contracture, Lymphopenia, Anemia |
OMIM:618460 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Spl... |
ORPHA:167 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocyt... |
ORPHA:3260 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ... |
ORPHA:699 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Fusariosis |
|
Brain abscess, Osteomyelitis, Lung abscess, Abnormality of the spleen, Peritonitis, Arthritis, Ab... |
ORPHA:228119 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Fanconi Renotubular Syndrome 1 |
|
Short stature, Osteomalacia, Rickets |
OMIM:134600 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... |
OMIM:301040 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Rickets |
OMIM:616026 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Short stature, Osteomalacia, Fibrous dysplasia of the bo... |
ORPHA:249 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphocytosis |
ORPHA:139402 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, Hepatitis, T ly... |
OMIM:619381 |
Hypercholanemia, Familial 1 |
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Rickets |
OMIM:607748 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... |
ORPHA:289176 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Short stature, Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoi... |
OMIM:607944 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Postna... |
OMIM:227810 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Finger symphalan... |
ORPHA:221016 |
Hermansky-Pudlak Syndrome 10 |
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Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
Neu-Laxova Syndrome |
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Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Intrauterine growth retarda... |
ORPHA:2671 |
Rothmund-Thomson Syndrome Type 1 |
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Osteopenia, Abnormal trabecular bone morphology, Short stature, Aplastic anemia, Finger symphalan... |
ORPHA:221008 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocyto... |
ORPHA:37042 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Cartilage-Hair Hypoplasia |
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Hepatomegaly, Abnormally ossified vertebrae, Rhizomelia, Abnormality of the pancreas, Neutropenia... |
ORPHA:175 |
Trichothiodystrophy |
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Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... |
ORPHA:33364 |
Toxic Epidermal Necrolysis |
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Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Pancreatitis, Thromboc... |
ORPHA:537 |
Leigh Syndrome |
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Multiple joint contractures, Growth delay, Neutropenia, Intrauterine growth retardation, Hepatic ... |
ORPHA:506 |
X-Linked Hypophosphatemia |
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Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Limitation of joint... |
ORPHA:89936 |
Cohen Syndrome |
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Short stature, Neutropenia, Joint hyperflexibility, Delayed puberty, Intrauterine growth retardation |
ORPHA:193 |
Renal Tubular Acidosis, Distal, 1 |
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Pathologic fracture, Osteomalacia |
OMIM:179800 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Short stature, Recurrent fractures, Rickets |
OMIM:268315 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Growth delay, Elevated hepatic transaminase, Neutropenia |
OMIM:615471 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Megaloblastic anemia, Jaundice, Growth delay, Neutropenia, Intrauterine growth retardation, Throm... |
ORPHA:79282 |
Loeffler Endocarditis |
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Eosinophilia |
ORPHA:75566 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Osteopenia, Rhizomelia, Delayed ossification of carpal bones, Disproportionate short-limb short s... |
OMIM:271510 |
3-Methylglutaconic Aciduria, Type Viii |
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Death in infancy, Jaundice, Growth delay, Neutropenia, Neonatal death |
OMIM:617248 |
Oculocerebrorenal Syndrome Of Lowe |
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Death in infancy, Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Thrombocytop... |
ORPHA:534 |
Iga Pemphigus |
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Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hepatocellular carcinoma, Gout, Delayed p... |
OMIM:232240 |
Dermatomyositis |
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Arthritis, Abnormal eosinophil morphology |
ORPHA:221 |
Thrombocytopenia-Absent Radius Syndrome |
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Death in infancy, Short stature, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly... |
OMIM:274000 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Short stature, Rickets |
OMIM:612089 |
Kikuchi-Fujimoto Disease |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neu... |
ORPHA:50918 |
Agammaglobulinemia 1, Autosomal Recessive |
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Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Dent Disease |
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Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Occipital Horn Syndrome |
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Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Rickets, Osteolysis, Hepatitis, Cholestasis, Jo... |
ORPHA:198 |
Cystinosis, Nephropathic |
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Hepatomegaly, Short stature, Splenomegaly, Rickets, Growth delay, Delayed puberty, Hypophosphatem... |
OMIM:219800 |
Eosinophilic Granulomatosis With Polyangiitis |
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Arthritis, Eosinophilia |
ORPHA:183 |
Vici Syndrome |
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Postnatal growth retardation, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of... |
OMIM:242840 |
Coccidioidomycosis |
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Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Peritonitis, Osteolysis, Arthrit... |
ORPHA:228123 |
Cushing Disease |
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Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis |
ORPHA:96253 |
Whim Syndrome |
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Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
Sarcoidosis |
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Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Bone c... |
ORPHA:797 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Growth delay, Short stature, Neutropenia |
OMIM:617799 |
Incontinentia Pigmenti |
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Osteolysis, Camptodactyly of finger, Short stature, Eosinophilia |
ORPHA:464 |
Incontinentia Pigmenti |
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Leukocytosis, Short stature, Eosinophilia |
OMIM:308300 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Osteopenia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Osteoporosis, Rick... |
ORPHA:2636 |
Mucoepithelial Dysplasia, Hereditary |
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Eosinophilia |
OMIM:158310 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Pancreatitis, Osteomalacia |
OMIM:600740 |
Igg4-Related Submandibular Gland Disease |
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Retroperitoneal fibrosis, Abnormal pancreas morphology, Eosinophilia, Cholangitis |
ORPHA:449432 |
Igg4-Related Pachymeningitis |
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Pancreatitis, Eosinophilia |
ORPHA:449427 |
Aspartylglucosaminuria |
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Joint laxity, Hepatomegaly, Short stature, Vacuolated lymphocytes, Neutropenia, Pathologic fracture |
OMIM:208400 |
Zygomycosis |
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Brain abscess, Peritonitis, Hepatitis, Osteolysis, Neutropenia, Splenic abscess, Pancreatitis |
ORPHA:73263 |
Infantile Nephropathic Cystinosis |
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Growth delay, Rickets |
ORPHA:411629 |
Sponastrime Dysplasia |
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Joint laxity, Rhizomelia, Delayed epiphyseal ossification, Generalized joint laxity, Ivory epiphy... |
ORPHA:93357 |
Lowe Oculocerebrorenal Syndrome |
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Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retardation, Rickets, Path... |
OMIM:309000 |
Hermansky-Pudlak Syndrome |
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Neutropenia |
ORPHA:79430 |
X-Linked Intellectual Disability, Nascimento Type |
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Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
Primary Fanconi Renotubular Syndrome |
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Growth delay, Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Pancreatoblastoma, Leukocytosis, Osteoporosis, Decreased eosinophil co... |
ORPHA:99889 |
Igg4-Related Ophthalmic Disease |
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Retroperitoneal fibrosis, Pancreatitis, Eosinophilia, Cholangitis |
ORPHA:449563 |
Igg4-Related Kidney Disease |
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Eosinophilia, Retroperitoneal fibrosis, Abnormal mesentery morphology, Sclerosing cholangitis, Ch... |
ORPHA:449395 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Elevated hepatic transaminase, Anemia, Neutropenia |
ORPHA:95455 |
Familial Hypocalciuric Hypercalcemia |
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Pancreatitis, Osteomalacia |
ORPHA:405 |
Generalized Arterial Calcification Of Infancy |
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Osteomalacia, Hepatic calcification, Abnormal calcification of the carpal bones, Fused cervical v... |
ORPHA:51608 |
Tropical Endomyocardial Fibrosis |
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Splenomegaly, Eosinophilia, Hepatomegaly |
ORPHA:75565 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
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Joint hypermobility |
ORPHA:500166 |