Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggreg... |
OMIM:617443 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... |
ORPHA:182050 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... |
OMIM:153670 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... |
ORPHA:274 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Metrorrhagia, Epistaxis, Albinism, Impai... |
OMIM:614074 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Abnormality of the menstrual cycle, Sp... |
ORPHA:721 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Throm... |
OMIM:210250 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi... |
OMIM:614076 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Hypopigmentation of the skin, Epistaxis, Albinism, Im... |
OMIM:614075 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Melanocytic nevus |
ORPHA:3319 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... |
OMIM:607624 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:614072 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Malaria |
|
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... |
ORPHA:3318 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair |
OMIM:269600 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the skin, Thrombo... |
OMIM:614171 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility, Decreased serum thrombox... |
OMIM:614158 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair, Fine hair, D... |
OMIM:222470 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Fair hai... |
OMIM:608233 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... |
ORPHA:84064 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Prolonged bleeding time, Abs... |
OMIM:301000 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal... |
ORPHA:381 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Irregular hyperpigmentation, Hypoplastic anemia, Thromboc... |
OMIM:194350 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... |
OMIM:150550 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Petechiae, Hyperpigmentation of the skin, Splenomegaly, Sea-blue histiocytosis... |
ORPHA:158029 |
Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia... |
ORPHA:507 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Abno... |
OMIM:226990 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Takenouchi-Kosaki Syndrome |
|
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Cryptorchidism, Synophrys,... |
OMIM:616737 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Tufted Angioma |
|
Purpura, Petechiae, Thrombocytopenia, Anemia, Hypertrichosis |
ORPHA:1063 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Prolonged bleeding a... |
ORPHA:98879 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of ... |
ORPHA:86839 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormality of the menstrual cycle, Microcy... |
ORPHA:90308 |
Hermansky-Pudlak Syndrome 11 |
|
Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granul... |
OMIM:619172 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... |
OMIM:603585 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
Neurofibromatosis-Noonan Syndrome |
|
Multiple cafe-au-lait spots, Prolonged bleeding time, Cryptorchidism |
ORPHA:638 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, Testicu... |
OMIM:613987 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Hyperpigmentation of the skin, Anemia, Leukopenia, Bone marrow hypocellul... |
OMIM:619151 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:49566 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased pro... |
OMIM:619802 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration... |
ORPHA:91547 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia, Cryptorchidism |
OMIM:611209 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec... |
OMIM:203300 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Anemia, Leukopenia, Irregular hyperpi... |
OMIM:620184 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:618048 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... |
ORPHA:101028 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin... |
ORPHA:3322 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abno... |
ORPHA:848 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia |
OMIM:615750 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Hematochez... |
OMIM:617718 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... |
ORPHA:99828 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:79312 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocyt... |
ORPHA:520 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... |
OMIM:301078 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature... |
ORPHA:79477 |
Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ... |
ORPHA:824 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa... |
ORPHA:210136 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... |
OMIM:214500 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Internal hemorrhage, Anemia |
ORPHA:69077 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, Splenomeg... |
OMIM:603553 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating ... |
OMIM:185070 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Abnormality of retinal pigmentation, Anemia |
ORPHA:858 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coo... |
OMIM:304790 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen... |
OMIM:613989 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Incre... |
ORPHA:540 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... |
ORPHA:64743 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... |
OMIM:603554 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Reticulated skin pigmentation, Cryptorchidism, Fine hair... |
OMIM:613990 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:27 |
Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Thrombocytopenia |
ORPHA:487796 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Alopecia, Splenomegaly, L... |
ORPHA:809 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Epistaxis, Splenomegaly, Ecchymosis, Thrombocytopenia |
OMIM:619463 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Stt3B-Cdg |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Reticular hyperpigmentation, Anemia, Leukopeni... |
OMIM:127550 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Prolidase Deficiency |
|
Petechiae, Thrombocytopenia, Splenomegaly, Low posterior hairline, Increased circulating antibody... |
OMIM:170100 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Immunodeficiency 10 |
|
Nail dysplasia, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches, Anemia, Agammaglobulinemia, Hypocalcemia, Neutropenia, Thro... |
ORPHA:47 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Sparse eyelashes... |
OMIM:224230 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Boutonneuse Fever |
|
Petechiae, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thromboc... |
ORPHA:83313 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Cog4-Cdg |
|
Hypercholesterolemia, Thick hair, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, Cryptorchidism |
OMIM:249270 |
Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Normochromic anem... |
OMIM:614857 |
Snakebite Envenomation |
|
Abnormal bleeding, Hyponatremia, Epistaxis, Intracranial hemorrhage, Gingival bleeding, Ecchymosi... |
ORPHA:449285 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Alopecia, Thrombocytopenia |
ORPHA:79242 |
Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... |
ORPHA:90045 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
Sengers Syndrome |
|
Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Increased circulating ferritin concentration, Leukocytosis, Congenital throm... |
OMIM:618886 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura |
OMIM:605432 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion of CD4-p... |
OMIM:615758 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutr... |
OMIM:251000 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Smith-Kingsmore Syndrome |
|
Curly hair, Cryptorchidism, Cafe-au-lait spot, Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, Hyperammonemia, Prolonge... |
ORPHA:99901 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T c... |
OMIM:614576 |
Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thrombocytopenia |
ORPHA:85212 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Hypertrichosis, Anemia, Leukopenia, Prolonged prothrombin time... |
ORPHA:2330 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Decreased... |
OMIM:608104 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Macs Syndrome |
|
Prolonged bleeding time, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism... |
OMIM:613075 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Propionic Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Thromb... |
OMIM:606054 |
Gaucher Disease, Type I |
|
Pancytopenia, Hyperpigmentation of the skin, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Thro... |
OMIM:230800 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... |
OMIM:227650 |
Tularemia |
|
Thrombocytopenia, Leukocytosis, Increased circulating antibody level, Anemia |
ORPHA:3392 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Zika Virus Disease |
|
Thrombocytopenia, Increased circulating IgM level, Subcutaneous hemorrhage, Retinal pigment epith... |
ORPHA:448237 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Hypermelanotic macule, Abnormal immunoglobulin level, Bilateral cryptorchidism, Ele... |
OMIM:242900 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posterior hairline, Anemia, Leukop... |
OMIM:617303 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of retinal pigmentation, Anemia |
ORPHA:290 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Hypermelanotic macule, Thrombocytopenia |
OMIM:112200 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia... |
ORPHA:292 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... |
ORPHA:35909 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hyperpigmentation of the skin, Hypergonadotropic hypogonadism, Cryptorchidism, Reti... |
OMIM:600901 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation... |
ORPHA:454831 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Decreased circulating antibody level, Premature graying of hair, Multip... |
ORPHA:100 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal bleeding, A... |
ORPHA:247598 |
Mogs-Cdg |
|
Decreased circulating IgG level, Alopecia, Thrombocytopenia, Hepatosplenomegaly, Decreased circul... |
ORPHA:79330 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Thrombocytopenia |
OMIM:619980 |
Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Alopecia totalis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:618775 |
Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Low anterior hairline, Acute lymphoblastic leukemia, Thrombocytopen... |
OMIM:606593 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm... |
OMIM:251110 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Curly hair, Sparse eyebrow, Cryptorchidism, Blue irides, High anterior hairlin... |
OMIM:610733 |
Felty Syndrome |
|
Generalized hyperpigmentation, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Ir... |
ORPHA:47612 |
Immunodeficiency 40 |
|
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombocytopenia |
OMIM:616433 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Pigmentary retinopathy, Testicular atrophy, Thrombocy... |
OMIM:222300 |
Mirage Syndrome |
|
Hyponatremia, Petechiae, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Hyperk... |
OMIM:617053 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Metrorrhagia, Epistaxis, Intra... |
ORPHA:99147 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Splenomegaly, Anemia, Bruising susceptibility, Thrombocytopenia |
ORPHA:905 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hyperpigmentation of the skin, Hypergonadotropic hypogonadism, Cryptorchidism, Reti... |
OMIM:227645 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circulating an... |
ORPHA:77259 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Abnormality of the subungual region, Internal hemor... |
ORPHA:335 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cryptorchidism, Persiste... |
OMIM:617052 |
Schimke Immuno-Osseous Dysplasia |
|
Hypermelanotic macule, Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia... |
ORPHA:1830 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Alopecia, Thrombocytopenia |
OMIM:253270 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia |
OMIM:618253 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Th... |
OMIM:617591 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Thrombocytopenia, Increased serum testosterone level |
ORPHA:96181 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalveolar phosphol... |
OMIM:222700 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Iron deficiency anemia, Prolonged prothrombin time, Hypocalcemia, In... |
OMIM:212750 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia |
ORPHA:508542 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Alopecia, Increased circulating IgA level, Abnormal cir... |
ORPHA:2298 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Partial absence of specific antibody ... |
ORPHA:79324 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Synophrys, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Thrombocytopenia, Splenomegaly, ... |
ORPHA:464329 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernai... |
ORPHA:974 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Anemia, Intestinal bleeding, Nail dystrophy, Nail dysplasia... |
OMIM:612199 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level |
ORPHA:169105 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... |
OMIM:300972 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia |
OMIM:615816 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm... |
OMIM:251100 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Hypopigmentation of the skin, Hyperpigmenta... |
ORPHA:79277 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Necrotizing Enterocolitis |
|
Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating creatine kinase concentration, Cryptorchidism, Hirsutism, Leukopenia, Small ... |
OMIM:301056 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy... |
OMIM:620072 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Alopecia, Absent eyebrow, Hyperpigmentation of the skin, Splenomegaly, Loss of ... |
OMIM:263700 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... |
ORPHA:1775 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Cerebral hemorrhage, Petechiae |
OMIM:617397 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Fanconi Anemia, Complementation Group F |
|
Hyperpigmentation of the skin, Cryptorchidism, Anemia, Leukopenia, Bone marrow hypocellularity, C... |
OMIM:603467 |
Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
Overlap Myositis |
|
Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen... |
ORPHA:206572 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leuko... |
ORPHA:90051 |
Recon Progeroid Syndrome |
|
Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Anemia, Thrombocytopenia |
OMIM:620370 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... |
OMIM:557000 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Neutropenia, Thrombocytopenia |
OMIM:616271 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Iris hypop... |
ORPHA:177910 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, High nonceruloplasmin-bound serum... |
ORPHA:457351 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Conjugated hyperbilirubinemia, Thrombocytopenia |
OMIM:208085 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Increased circulati... |
ORPHA:319251 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Abnormal bleeding, Abnormal circulating seri... |
ORPHA:470 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Coarse hair, Bruising susceptibility, Thrombocytopenia |
OMIM:612394 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... |
ORPHA:99826 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia |
OMIM:620195 |
Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Hypergonadotropic hypogonadism, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thick hair, Hepatosplenomegaly, Anemia, Leukopenia, Increase... |
ORPHA:505248 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Petechiae |
OMIM:251290 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
ORPHA:169090 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Increased mean corpuscular volume, ... |
ORPHA:261250 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... |
OMIM:251880 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Abnormal... |
OMIM:227646 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Nail dystrophy, Hypocholesterolemia, Thrombocyt... |
ORPHA:31150 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Petechiae, Purpura |
OMIM:225750 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Parti... |
ORPHA:79430 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Hyperpigmentation of the... |
OMIM:305000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo... |
OMIM:615952 |
Pediatric-Onset Graves Disease |
|
Splenomegaly, Increased circulating free T3, Neutropenia in presence of anti-neutropil antibodies... |
ORPHA:525731 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Excessive bleeding after a venipuncture, L... |
ORPHA:319213 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
Yellow Fever |
|
Abnormal bleeding, Neutrophilia, Elevated circulating creatine kinase concentration, Excessive bl... |
ORPHA:99829 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Dysgammaglobulinemia, Retinal pigme... |
OMIM:251260 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... |
ORPHA:37042 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Prolonged prothrombin time, Hyperbil... |
ORPHA:79303 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Hypoplastic nipples, Small nail, Nail dystrophy, Periorbital hyperpigmentation, Thrombocy... |
ORPHA:261323 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Prolonged prothrombin time, Hypo... |
OMIM:212065 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Cryptorchidism, Anem... |
OMIM:620005 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Bilateral cryptorchidism, Abnormality of hair pigme... |
OMIM:618156 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperpigmentation of the skin, Ele... |
OMIM:256040 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Purpura |
OMIM:608013 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Caroli Syndrome |
|
Abnormal bleeding, Hematemesis, Hypersplenism, Leukocytosis, Conjugated hyperbilirubinemia, Melen... |
ORPHA:480520 |
Shigellosis |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ... |
ORPHA:810 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Abnormality of neutrophils, Hypoplastic toenai... |
ORPHA:235 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Vitreou... |
OMIM:620185 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Prolonged prothrombin time, Cryptorchidism |
OMIM:616559 |
Vici Syndrome |
|
Decreased circulating IgG level, Hypopigmentation of hair, Elevated circulating creatine kinase c... |
OMIM:242840 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Highly arched eyebrow, Cryptorchidism, Long eyelashes, Thromb... |
OMIM:619005 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Intracranial hemorrhage, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopen... |
ORPHA:163979 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dyspareunia, Abnormality of neutrophils, Anemia, Thrombocytopenia |
ORPHA:36426 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hematemesis, Splenomegaly, Increased circulating ferritin concent... |
OMIM:615846 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Subdural hemorrhage, Hyperammone... |
ORPHA:79282 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... |
ORPHA:71212 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Increased circul... |
ORPHA:297 |
Q Fever |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia,... |
ORPHA:781 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein... |
OMIM:614300 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia |
ORPHA:77261 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hyperpigmentation of the skin, Splenomegaly, Hypomagnesemia, Hypop... |
ORPHA:699 |
Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentra... |
ORPHA:340 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal hair morphology, ... |
ORPHA:647 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth f... |
ORPHA:77293 |
Gaucher Disease, Type Ii |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time, Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Whim Syndrome |
|
Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ... |
OMIM:277900 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hyperammonemia, Leukopenia, Prolonged prothrombin time, Hyperuricemia, Thrombocytos... |
ORPHA:20 |
Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:2909 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Hypersplenism, Thrombocytopenia, Leukocyto... |
ORPHA:1304 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Decreased HDL cholesterol concentration, Abnormality of retin... |
ORPHA:14 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221008 |
Infantile Liver Failure Syndrome 3 |
|
Splenomegaly, Prolonged prothrombin time, Hyperammonemia |
OMIM:618641 |
Gaucher Disease |
|
Abnormal bleeding, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomeg... |
ORPHA:355 |
Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Prolonged prothrombin time, Increase... |
ORPHA:309854 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia |
ORPHA:175 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time, Hypoalbuminemia, Hepatosplenomegaly |
ORPHA:367 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Neutropenia |
OMIM:232220 |
Cornelia De Lange Syndrome 1 |
|
Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Low posterior hairl... |
OMIM:122470 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Prolonged prothrombin time, Elevated circulating a... |
OMIM:617049 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukopenia... |
ORPHA:50918 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Splenomegaly, Prolonged prothrombin time, Hyperbilirubinemia |
OMIM:613812 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Elevated circulating alpha-fetoprotein concentrati... |
OMIM:276700 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Cryptorchidism, Low posterior hairline, Decreased circulating... |
OMIM:619004 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Decreased circulating antibody level, Leukopenia, Normochromic anemia, Increas... |
ORPHA:289390 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time, Hyperammonemia |
OMIM:616483 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Systemic Lupus Erythematosus |
|
Leukopenia, Alopecia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Int... |
ORPHA:3260 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphospha... |
ORPHA:466650 |
Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Epistaxis, Hematochezia, Prolonged prothrombin time, Horizontal eyebrow |
ORPHA:96168 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Hypopigmented skin ... |
ORPHA:84 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Cryptorchidism |
OMIM:618280 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Cryptorchidism, Thrombocytopenia |
OMIM:147791 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cryptorchidism, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hyperammonemia, Intracranial hemorrhage, Prolonge... |
ORPHA:90062 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Decreased serum bile acid concentration, Prolonged prothrombin time, Hyperbilirubin... |
OMIM:214950 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Multiple lentigines, Red hair, Freckling, Prof... |
OMIM:160980 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Hypoammonemia, Thrombocytopenia, Cryptorchidism, Fine hair, Azoo... |
ORPHA:534 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Prolonged bleeding following circumcision, Hepatosplenomegaly, Anemia... |
OMIM:274000 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, S... |
OMIM:619991 |
Sialuria |
|
Prolonged prothrombin time, Hepatosplenomegaly |
ORPHA:3166 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Male infer... |
OMIM:163950 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... |
ORPHA:2072 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia |
OMIM:301072 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia |
ORPHA:79259 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... |
ORPHA:79078 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia |
ORPHA:544482 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Impaired T cell function, Splenomegaly,... |
ORPHA:567 |
Roberts Syndrome |
|
Sparse hair, Cryptorchidism, Thrombocytopenia |
ORPHA:3103 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr... |
OMIM:619525 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... |
ORPHA:163746 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Jacobsen Syndrome |
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Aplasia/Hypoplasia of the eyebrow, Bone marrow hypocellularity, Thrombocytopenia, Cryptorchidism |
ORPHA:2308 |
Zygomycosis |
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Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
Albinism, Oculocutaneous, Type Ia |
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Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Ogden Syndrome |
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Sparse eyebrow, Cryptorchidism, Fine hair, Hydrocele testis, Iron deficiency anemia, Long eyelash... |
OMIM:300855 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Abnormal hemoglobin, Anemia |
ORPHA:847 |
Leptospirosis |
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Retinal hemorrhage, Subconjunctival hemorrhage, Hyperproteinemia, Thrombocytopenia, Pulmonary hem... |
ORPHA:509 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Classical Ehlers-Danlos Syndrome |
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Ecchymosis, Prolonged bleeding time, Bruising susceptibility |
ORPHA:287 |
Hardikar Syndrome |
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Decreased serum insulin-like growth factor 1, Hematemesis, Splenomegaly, Hypersplenism, Hepatospl... |
OMIM:301068 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Incre... |
ORPHA:731 |
Cog8-Cdg |
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Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
3-Methylglutaconic Aciduria, Type Viii |
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Neutropenia |
OMIM:617248 |
Glycogen Storage Disease Ic |
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Cyclic neutropenia |
OMIM:232240 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem... |
OMIM:311250 |
Thauvin-Robinet-Faivre Syndrome |
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Transient neutropenia |
OMIM:617107 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Intraventricular hemorrhage, Prolonged prothrombin time, Hypoalbuminemia, Elevated circulating cr... |
OMIM:619055 |
Sarcoidosis |
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Hemolytic anemia, Alopecia, Hyperpigmentation of the skin, Eosinophilia, Hypercalcemia, Increased... |
ORPHA:797 |
Primary Sclerosing Cholangitis |
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Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Pr... |
ORPHA:171 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Hyperalaninemia, Prolonged prothrombin time, Hypoalbuminemia |
OMIM:618329 |
Digeorge Syndrome |
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Impaired T cell function, Decreased circulating parathyroid hormone level, Splenomegaly, Anemia, ... |
OMIM:188400 |
Congenital Disorder Of Glycosylation, Type It |
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Decreased serum insulin-like growth factor 1, Prolonged prothrombin time, Elevated circulating cr... |
OMIM:614921 |
Isolated Biliary Atresia |
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Conjugated hyperbilirubinemia, Splenomegaly, Prolonged prothrombin time |
ORPHA:30391 |
Cystinosis, Nephropathic |
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Hyponatremia, Male infertility, Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelia... |
OMIM:219800 |
Brittle Cornea Syndrome |
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Bruising susceptibility, Abnormality of hair pigmentation |
ORPHA:90354 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anemia, Neutropenia |
ORPHA:95455 |
Aicardi-Goutières Syndrome |
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Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly |
ORPHA:51 |
Aspartylglucosaminuria |
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Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Osteogenesis Imperfecta |
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Thrombocytopenia, Bruising susceptibility, Cerebral hemorrhage |
ORPHA:666 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Splenomegaly, Decreased LDL cholesterol concentration, Pigmentary retinopathy, Prolonged prothrom... |
ORPHA:404454 |
Sponastrime Dysplasia |
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Neutropenia |
ORPHA:93357 |