Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 11A |
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Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Immunodeficiency 15B |
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Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Agammaglobulinemia 7, Autosomal Recessive |
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Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Immunodeficiency 50 |
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Lymphopenia, Neutropenia |
OMIM:300988 |
Lymphoproliferative Syndrome 3 |
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Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Thrombocytopenia 2 |
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Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Diamond-Blackfan Anemia 18 |
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Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Immunodeficiency 20 |
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Reduced natural killer cell count |
OMIM:615707 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
Autoinflammation With Infantile Enterocolitis |
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Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia, Congenital alopecia totalis |
ORPHA:169095 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
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Neutropenia |
OMIM:617014 |
Immunodeficiency 102 |
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Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Cyclic Neutropenia |
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Cyclic neutropenia |
OMIM:162800 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Whim Syndrome 2 |
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Chronic neutropenia |
OMIM:619407 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
Immunodeficiency 15A |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Immunodeficiency 43 |
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Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni... |
OMIM:241600 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
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Neutropenia |
OMIM:616022 |
Glutathione Synthetase Deficiency |
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Hemolytic anemia, Ataxia, Spastic tetraparesis, Increased level of L-pyroglutamic acid in urine, ... |
OMIM:266130 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
Malaria |
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Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
Immunodeficiency 24 |
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Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Neutropenia, Chronic Familial |
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Neutropenia |
OMIM:162700 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Lymphocytosis, Dystonia |
OMIM:610181 |
Pontocerebellar Hypoplasia, Type 14 |
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Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619301 |
Folate Malabsorption, Hereditary |
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Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... |
OMIM:603552 |
Pontocerebellar Hypoplasia, Type 15 |
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Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia |
OMIM:619302 |
Hemochromatosis, Type 3 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Agammaglobulinemia 3, Autosomal Recessive |
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Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Immunodeficiency 85 And Autoimmunity |
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T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
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Neutropenia |
ORPHA:70592 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon... |
OMIM:159550 |
Immune Thrombocytopenia |
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Thrombocytopenia |
OMIM:188030 |
Immunodeficiency 54 |
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Splenomegaly, Reduced natural killer cell count |
OMIM:609981 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Transcobalamin Deficiency |
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Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Trimethylaminuria |
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Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Fanconi Anemia, Complementation Group G |
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Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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T lymphocytopenia |
OMIM:242870 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Dystonia, Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, T... |
ORPHA:289916 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
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Neutropenia |
OMIM:610798 |
Hyperbilirubinemia, Shunt, Primary |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Eosinophilia, Familial |
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Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
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Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi... |
OMIM:243700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy |
OMIM:601705 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Immunodeficiency 8 With Lymphoproliferation |
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Lymphopenia |
OMIM:615401 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Clumsiness, Neutropenia |
OMIM:610738 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... |
OMIM:620133 |
Relapsing Fever |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Splenomegaly, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, Fair hair |
OMIM:269920 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Refractory Anemia |
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Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... |
ORPHA:169154 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Hemophagocytic Syndrome Associated With An Infection |
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Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... |
ORPHA:158048 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru... |
OMIM:620010 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Ataxia, Abnormal CD4... |
ORPHA:443811 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Pancytopenia, Splenomegaly, Hyperlipidemia, Premature graying of hair, ... |
ORPHA:79477 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia... |
OMIM:610539 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Fair hair, Decreased CD4:CD8 ratio, Albinism, Splenomegaly, Impai... |
OMIM:608233 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair |
OMIM:269600 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Ataxia, Paraparesis, Hyperammonemia, Anemia, Leukopenia, Choreoathetosis, Tetr... |
ORPHA:27 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hemipar... |
ORPHA:444463 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Hirsutism, Anemia, Neutropenia, Thrombocytopenia |
OMIM:617475 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... |
ORPHA:1667 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... |
OMIM:613280 |
Propionic Acidemia |
|
Pancytopenia, Dystonia, Osteoporosis, Hyperglycinuria, Hyperammonemia, Anemia, Hyperglycinemia, N... |
OMIM:606054 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo... |
OMIM:301078 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Th... |
OMIM:603585 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... |
ORPHA:713 |
Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... |
OMIM:619868 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
OMIM:603553 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells |
OMIM:620282 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... |
OMIM:615513 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... |
OMIM:618048 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Ataxia, Abnormal T cell subset distribution, Low posterior hairline, Intention tremor... |
ORPHA:221139 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia |
OMIM:615010 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Sparse pubic hair, Lymphocytosis, Short eyelash... |
OMIM:258360 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Clonus, Splenomegaly,... |
OMIM:259720 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hyperammonemia, Neutropenia, Sparse hair, Spasticity, Craniofacial dystonia |
OMIM:618253 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy... |
OMIM:169400 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal central motor function, Hypouricemia, Ataxia, Cerebral pals... |
ORPHA:760 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Osteoporosis, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Trichothiodystrophy 3, Photosensitive |
|
Brittle hair, Hypertonia, Neutropenia, Tiger tail banding, Lymphopenia, Trichorrhexis nodosa |
OMIM:616395 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus |
OMIM:256731 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... |
OMIM:619220 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia, Tongue fasciculations |
OMIM:619851 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia |
ORPHA:100024 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:618116 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Generalized hirsutism |
ORPHA:79087 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Premature graying of hair, Leukopenia, White foreloc... |
OMIM:613989 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm... |
OMIM:251110 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Lower limb... |
ORPHA:2169 |
Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... |
OMIM:603554 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni... |
OMIM:251100 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash morphology, Spl... |
ORPHA:381 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia |
OMIM:615387 |
Progressive Multifocal Leukoencephalopathy |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Decreased proportion of CD8-positiv... |
ORPHA:217260 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Incoordination, Megaloblastic anemia, Cystathioninuria, Hyp... |
OMIM:277380 |
3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkinetic movements, Myoc... |
OMIM:616271 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Low posterior h... |
OMIM:604173 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Cutaneous abscess, Reduced circulating C-reactive protein concecntration, Decreased proportion of... |
OMIM:618944 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Hypertonia, Anemia |
OMIM:620184 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... |
OMIM:615673 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Ataxia, Tremor, Thrombocytop... |
OMIM:214500 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Sneddon Syndrome |
|
Tremor, Lymphopenia, Hemiplegia |
OMIM:182410 |
Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Slurred speech, Myoclonus, Thrombocytopenia |
ORPHA:3327 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Hypertonia, Spastic tetraplegia, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Pa... |
ORPHA:79124 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Felty Syndrome |
|
Splenomegaly, Osteolysis, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte m... |
ORPHA:47612 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Abnormal lym... |
ORPHA:229717 |
3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... |
ORPHA:445038 |
Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Ataxia, Neutropenia |
OMIM:620012 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Microcytic anemia, Highly elevated creatine k... |
OMIM:251900 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Hyperlipidemia, Hemiparesis, Decreased proportion of naive CD8 T cells, Abnorma... |
ORPHA:1830 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly |
OMIM:618982 |
Developmental And Epileptic Encephalopathy 66 |
|
Synophrys, Anemia, Neutropenia |
OMIM:618067 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperh... |
OMIM:277400 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... |
ORPHA:167 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly |
OMIM:619126 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Abnormal T cell morphology, Anemia, Fine hair, Coarse hair, Neutropenia... |
OMIM:242900 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne... |
OMIM:304790 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi... |
OMIM:274150 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly... |
ORPHA:822 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posterior hairline, Anemia, Leukop... |
OMIM:617303 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... |
OMIM:619381 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... |
ORPHA:101028 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytopenia |
OMIM:610333 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Immunodeficiency 23 |
|
Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Myoclonus, Neutropenia, Lymphopenia, Cortical my... |
OMIM:615816 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Spasticity, Lymphopenia |
ORPHA:100 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Spastic paraparesis, Thrombocytopenia |
OMIM:231000 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al... |
OMIM:615559 |
3-Methylglutaconic Aciduria Type 4 |
|
Spasticity, Thrombocytopenia |
ORPHA:67048 |
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 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Pancytopenia, Dystonia, Ataxia, Premature graying of hair, Bone marrow hypocellularit... |
OMIM:617341 |
Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Ataxia, Osteoporosis, Anemia, Leukopenia, Premature graying of hair, I... |
OMIM:127550 |
Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus, Thrombocytopenia |
OMIM:274240 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Paralysis |
ORPHA:83601 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Cohen Syndrome |
|
Leukopenia, Thick eyebrow, Neutropenia |
OMIM:216550 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Premature graying of hair, Bone marrow hypocellularity, Nail dystrophy, Abnormally ... |
OMIM:619767 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Hypocalcemia, Abnorma... |
ORPHA:210110 |
Rhabdoid Tumor |
|
Cerebral palsy, Hypercalcemia, Anemia, Hemiplegia, Thrombocytopenia |
ORPHA:69077 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Hyperbilirubinemia, Abnorma... |
ORPHA:79303 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Spastic diplegia, T lymphocytopenia, Sclerosis of skull base, Progre... |
OMIM:607944 |
Overlap Myositis |
|
Elevated circulating creatine kinase concentration, Leukopenia, Tetraparesis, Abnormal circulatin... |
ORPHA:206572 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Dystonia, Ataxia, Hyperammonemia, Choreoathetosis, Neutropenia, Hyperalaninemia, Thick eyebrow |
OMIM:615471 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... |
ORPHA:3240 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Nail dystrophy, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Bone cyst, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi... |
OMIM:277900 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Edinburgh Malformation Syndrome |
|
Frontal hirsutism, Neonatal hyperbilirubinemia |
OMIM:129850 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Widow's peak, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Ataxia, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... |
ORPHA:100026 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Tetraplegia, Hepatosplen... |
OMIM:618278 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Fair hair |
OMIM:302060 |
Reynolds Syndrome |
|
Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia |
OMIM:613471 |
Aicardi-Goutieres Syndrome 5 |
|
Spasticity, Thrombocytopenia |
OMIM:612952 |
Caroli Syndrome |
|
Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir... |
ORPHA:480520 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia,... |
ORPHA:37042 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Ataxia, Premature graying of hair, Anemia, Hype... |
ORPHA:3322 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Increased T cell count, Nail dystrophy, Increased B cell count, Sparse hair |
ORPHA:98813 |
Cog4-Cdg |
|
Ataxia, Thick hair, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Limb hypertonia |
ORPHA:263501 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... |
OMIM:251880 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess |
ORPHA:3392 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Alopecia of scalp, B lymphocytopenia, Abnormal... |
OMIM:602450 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor... |
ORPHA:848 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro... |
ORPHA:90051 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... |
OMIM:617099 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Lipoyltransferase 1 Deficiency |
|
Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Alaninuria, Abnormality of extrapyramid... |
OMIM:616299 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Spastic tetraplegia, T ... |
OMIM:617237 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir... |
ORPHA:529799 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia |
ORPHA:397596 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Low posterio... |
OMIM:611881 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Osteoporosis, Fine hair, Premature graying of ha... |
OMIM:613990 |
Mirage Syndrome |
|
Hyponatremia, Radial club hand, Hyperkalemia, Paraplegia, Anemia, Leukopenia, Hypoplastic spleen,... |
OMIM:617053 |
Ataxia-Telangiectasia |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal hair morphology, Tremor, S... |
OMIM:208900 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... |
OMIM:557000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Osteopenia, Anisocytosis, Splenomegaly,... |
ORPHA:79277 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Osteoporosis, Intraalv... |
OMIM:222700 |
Graft Versus Host Disease |
|
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Hermansky-Pudlak Syndrome 10 |
|
Albinism, Splenomegaly, Dystonia, Neutropenia |
OMIM:617050 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Alopecia, Ataxia, Thrombocytopenia |
ORPHA:79242 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa... |
ORPHA:210136 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Osteopetrosis, A... |
OMIM:611490 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Hemiparesis, Thrombocytopenia |
OMIM:615750 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:610377 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification... |
OMIM:260400 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Osteopenia |
OMIM:211600 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Aminoaciduria, Thrombocyt... |
OMIM:249270 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Vici Syndrome |
|
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Leukopeni... |
OMIM:242840 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Leukocytosis, Frequent falls, Choreoathetosis |
ORPHA:206594 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Leigh Syndrome |
|
Alopecia, Dystonia, Ataxia, Involuntary movements, Chorea, Upper motor neuron dysfunction, Spasti... |
ORPHA:506 |
Sézary Syndrome |
|
Alopecia, Tremor, Splenomegaly, Nail dystrophy, Abnormal lymphocyte morphology |
ORPHA:3162 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Thrombocytopenia... |
OMIM:617710 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatospl... |
OMIM:259710 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:235555 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ... |
OMIM:613839 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Le... |
ORPHA:50918 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
Abetalipoproteinemia |
|
Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Ataxia, Acanthocytosis, Upp... |
ORPHA:14 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Aminoaciduria, Thrombocytopenia |
OMIM:208085 |
Whim Syndrome |
|
Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordination, Neutropenia, Lymphopenia |
ORPHA:51636 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemia, Hypocalcemi... |
OMIM:259700 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... |
OMIM:617718 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... |
ORPHA:36234 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hirsutism, Neutropenia |
OMIM:618005 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Adult-Onset Still Disease |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:829 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Thrombocytopenia |
OMIM:308230 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Caroli Disease |
|
Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating al... |
ORPHA:53035 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Spasticity, Hypertonia, Thrombocytopenia |
OMIM:616577 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria |
OMIM:615578 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... |
OMIM:619375 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Hypertrichosis |
ORPHA:1063 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Sengers Syndrome |
|
Osteopenia, Thrombocytopenia |
OMIM:212350 |
Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia |
OMIM:615758 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytos... |
OMIM:608885 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Osteoporosis, Hyperuricemia, Neutropenia |
OMIM:232220 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
Gaucher Disease Type 1 |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteolysis... |
ORPHA:77259 |
Bare Lymphocyte Syndrome, Type Ii |
|
Neutropenia |
OMIM:209920 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla... |
OMIM:617443 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... |
OMIM:616084 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:36238 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Hemiplegia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Snakebite Envenomation |
|
Hyponatremia, Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia |
ORPHA:449285 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Khan-Khan-Katsanis Syndrome |
|
Highly arched eyebrow, Trichiasis, Hypertonia, Neutropenia, Lymphopenia, Anemia |
OMIM:618460 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia |
OMIM:607765 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Hyperammonemia, Hyperhom... |
ORPHA:79282 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving bones of the lowe... |
ORPHA:464321 |
Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Hypertonia, Thrombocytopenia |
ORPHA:85212 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Thr... |
OMIM:254900 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Sparse eyelashes, A... |
ORPHA:2909 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating creatine kinase concentration, Craniosynostosis, Thrombocytopenia, Leukopeni... |
OMIM:301056 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Saccharopinuria |
|
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Cystinuria... |
ORPHA:3124 |
Hijazi-Reis Syndrome |
|
Ankle clonus, Lower limb spasticity, Hyperbilirubinemia |
OMIM:301094 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Spastic diplegia, Anemia |
ORPHA:290 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Trichothiodystrophy |
|
Osteopenia, Sparse scalp hair, Increased bone mineral density, Brittle hair, Craniosynostosis, In... |
ORPHA:33364 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Alopecia, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombocytopenia, ... |
ORPHA:293978 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227645 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splenom... |
OMIM:612852 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc... |
ORPHA:470 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, ... |
ORPHA:319213 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Neonatal hyperbilirubinemia, Abnorm... |
ORPHA:163956 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... |
ORPHA:99901 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Paralysis,... |
ORPHA:297 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ... |
ORPHA:391487 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Alopecia, Hypertonia, Thrombocytopenia |
OMIM:253270 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Spastic paraplegia, Hepatosp... |
ORPHA:168577 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Spastic diplegia, Increased mean platelet volume |
OMIM:300048 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, Neutropenia, Sparse ... |
OMIM:617799 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo... |
OMIM:615952 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia |
OMIM:617744 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, S... |
ORPHA:221008 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ... |
ORPHA:48818 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myoclonus, Limb myoclonus, Frequent falls |
ORPHA:2590 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Aminoaciduria, Myoclonus, Elevated hepatic iron concentration, Thrombocytopenia |
OMIM:614946 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Tremor, Osteoporosis, Abnormal pyramidal sign, Fine hair, Premature graying o... |
OMIM:612199 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Pediatric-Onset Graves Disease |
|
Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Hyp... |
ORPHA:525731 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Elevated circulating creatine kinase concentration, Alopecia totalis, Thromb... |
OMIM:618775 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Fumarase Deficiency |
|
Aminoaciduria, Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic... |
ORPHA:124 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia |
OMIM:222300 |
Adams-Oliver Syndrome |
|
Alopecia, Hemiparesis, Leukopenia, Hypertonia, Sparse hair, Thrombocytopenia |
ORPHA:974 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair, Spastic diplegia, Thrombocytopenia |
OMIM:619980 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, S... |
OMIM:619991 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... |
OMIM:607330 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, S... |
ORPHA:221016 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:613812 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo... |
OMIM:618885 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Ataxia, Anemia |
ORPHA:79325 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Splenomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614576 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Anemia |
ORPHA:1192 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Neutropenia, Hypertonia, Dystonia |
OMIM:617248 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Cohen Syndrome |
|
Thick hair, Abnormal eyelash morphology, Low anterior hairline, Long eyelashes, Neutropenia, Thic... |
ORPHA:193 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Osteoporosis, Bone marrow hyp... |
OMIM:224230 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Hemiparesis, Elevated circulating creatinine concentration |
ORPHA:247691 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Craniosynostosis, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Opisthotonus, ... |
ORPHA:508533 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Babinski sign, Clonus, Hyperbilirubinemia |
ORPHA:101009 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, High nonceruloplasmin-bound serum... |
ORPHA:457351 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot... |
ORPHA:29073 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia |
ORPHA:163979 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Righ... |
OMIM:607426 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Ataxia, Splenomegaly, Hypomagnesemia, Hypophosphatemia, Anemia, Hy... |
ORPHA:699 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Sparse eyebrow, Abnormal bone ossification, Hypocalcemia, Neutrope... |
ORPHA:175 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227646 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Lower limb spasticity, Sparse scalp hair, Sparse eyelashes, Hyperbilirubinemia |
OMIM:619075 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Reduced bone mineral density, Fine hair, Lymphopenia, Anemia |
ORPHA:935 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:603467 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Anemia, Sparse hair, Lymphopenia, T... |
OMIM:620005 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Delayed ossification of carpal bones, Neutropenia |
OMIM:271510 |
Glycogen Storage Disease Ic |
|
Hyperuricemia, Hyperlipidemia, Cyclic neutropenia |
OMIM:232240 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Low anterior hairline, Thrombocytopenia |
OMIM:606593 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Prolidase Deficiency |
|
Splenomegaly, Low posterior hairline, Anemia, Facial hirsutism, Thrombocytopenia |
OMIM:170100 |
Shigellosis |
|
Hyponatremia, Abscess, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic... |
ORPHA:810 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Long eyelashes, Abnormality of thrombocytes, Neutropenia |
ORPHA:79430 |
Degcags Syndrome |
|
Osteopenia, Abnormal eyebrow morphology, Pancytopenia, Hypopigmentation of hair, Craniosynostosis... |
OMIM:619488 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Hyperuricemi... |
ORPHA:79259 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Abnormal cortical bone morphology, Hype... |
OMIM:614886 |
Smith-Kingsmore Syndrome |
|
Curly hair, Thrombocytopenia |
OMIM:616638 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Albi... |
OMIM:614074 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Synophrys, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased total bilirubin |
ORPHA:2137 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Wilson Disease |
|
Splenomegaly, Thrombocytopenia, Anemia, Clumsiness |
ORPHA:905 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Spasticity, Thrombocytopenia, Dystonia |
OMIM:251290 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:169105 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Babinski sign, Spastic paraplegia, Upper limb spasticity, Neonatal... |
OMIM:609727 |
Coach Syndrome 2 |
|
Oculomotor apraxia, Elevated circulating creatinine concentration |
OMIM:619111 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Pancytopenia, Thin bony cortex, Rickets, Reduced bone mineral density, Hypoalbuminemi... |
OMIM:613658 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Limb dystonia, Thrombocytopenia, Limb ... |
ORPHA:572798 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration... |
ORPHA:2298 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Alg12-Cdg |
|
Hyponatremia, Low posterior hairline, Abnormal bone ossification, B lymphocytopenia, Hypoalbumine... |
ORPHA:79324 |
Familial Mediterranean Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:249100 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thick hair, Hepatosplenomegaly, Anemia, Leukopenia, Long eyelashes, Bone marrow hypocellularity, ... |
ORPHA:505248 |
Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corp... |
ORPHA:160 |
Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia |
OMIM:251260 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Hyperbilirubinemia |
ORPHA:562639 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Abnormality of extrapyramidal motor function, Dystonia, Spasticity, Thrombocytopenia |
OMIM:225750 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... |
ORPHA:95716 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus |
OMIM:619685 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Chorea, Leukopenia, Thrombocytopenia |
ORPHA:536 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low anterior hairline, Neonatal hyperbilirubinemia, Osteoporosis, Low posterior hairline |
ORPHA:73272 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phytanic acid concentration, He... |
OMIM:614866 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Tremor, Abnormal pyramidal... |
ORPHA:3008 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hy... |
OMIM:227810 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Alopecia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Osteolys... |
OMIM:263700 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Nail dystrophy, Hypocholesterolemia, Thrombocyt... |
ORPHA:31150 |
Brucellosis |
|
Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration, Hypersplenism... |
ORPHA:1304 |
Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Chorea, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
Gaucher Disease, Type Ii |
|
Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Thrombocytopenia |
OMIM:230900 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Splenomegaly, B... |
ORPHA:309854 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Op... |
ORPHA:79139 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
ORPHA:169090 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Aspartylglucosaminuria |
|
Spasticity, Vacuolated lymphocytes, Aspartylglucosaminuria, Neutropenia |
OMIM:208400 |
Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline, Thrombocytopenia |
OMIM:610733 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Coarse hair, Thrombocytopenia |
OMIM:612394 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
Recon Progeroid Syndrome |
|
Thrombocytopenia, Absent lower eyelashes, Hirsutism, Anemia |
OMIM:620370 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Cerebral palsy, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Hardikar Syndrome |
|
Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia |
OMIM:301068 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Alopecia, Sparse eyelashes, Ataxia, Osteoporosis, Anemia, L... |
OMIM:305000 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... |
OMIM:208920 |
Ogden Syndrome |
|
Torticollis, Sparse eyebrow, Fine hair, Iron deficiency anemia, Hypertonia, Long eyelashes, Hyper... |
OMIM:300855 |
Gaucher Disease |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Ataxia, Elevated circulating C-reactive... |
ORPHA:355 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormality of neutrophils, Abnormal eyelash morphology, T... |
ORPHA:1775 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thr... |
ORPHA:77293 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eyebrow, Thrombocy... |
OMIM:620072 |
Farber Disease |
|
Paraparesis, Osteoporosis, Hepatosplenomegaly, Anemia, Myoclonus, Spasticity, Thrombocytopenia |
ORPHA:333 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc... |
ORPHA:567983 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells |
OMIM:307200 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... |
OMIM:617013 |
Intrahepatic Cholestasis Of Pregnancy |
|
Tremor, Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, Splenomegaly, Increa... |
OMIM:615846 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo... |
OMIM:606159 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Splenomegaly, Babinski sign, Lower limb hypertonia, Myoclonus, Truncal a... |
OMIM:301072 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hemiparesis, Hypocalce... |
ORPHA:544482 |
Mogs-Cdg |
|
Alopecia, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Dystonia, Fair hair, Hirsutism |
ORPHA:79330 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Gaucher Disease Type 3 |
|
Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Osteolysis, Anemia, Thrombocy... |
ORPHA:77261 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Increased mean corpuscular volume, Abnormal hair pattern, Thrombocytopenia |
ORPHA:261250 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:30391 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Cranioectodermal Dysplasia 2 |
|
Sparse eyelashes, Craniosynostosis, Sparse eyebrow, Splenomegaly, Polysplenia, Hyperbilirubinemia... |
OMIM:613610 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
Lissencephaly Due To Lis1 Mutation |
|
Progressive spastic quadriplegia, Neonatal hyperbilirubinemia, Tetraplegia, Opisthotonus |
ORPHA:95232 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp... |
ORPHA:3260 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Thrombo... |
OMIM:616737 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Hypoplastic nipples, Anemia, Nail dystrophy |
ORPHA:261323 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem... |
ORPHA:845 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia, Spasticity |
OMIM:617093 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Hyper-Igd Syndrome |
|
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:293939 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chorea, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive ... |
ORPHA:289390 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia |
ORPHA:464329 |
Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Opisthotonus, Anemia, Hepatosplenomegaly, Thrombocytopenia |
OMIM:608013 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Aminoaciduria |
OMIM:613404 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Supernumerary nipple |
OMIM:614376 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Osteolysis, Neutropenia |
ORPHA:73263 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Myoclonus |
ORPHA:46059 |
Leukocyte Adhesion Deficiency Type Ii |
|
Broad eyebrow, Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Low anterior hairline, Lowe... |
ORPHA:99843 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Inte... |
OMIM:212065 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Rift Valley Fever |
|
Paralysis, Paraparesis, Anemia, Hemiparesis, Decerebrate rigidity, Thrombocytopenia |
ORPHA:319251 |
Stevens-Johnson Syndrome |
|
Anemia, Thrombocytopenia, Abnormality of neutrophils |
ORPHA:36426 |
Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu... |
ORPHA:99827 |
Dubowitz Syndrome |
|
Sparse scalp hair, Abnormality of neutrophils, Craniosynostosis, Low anterior hairline, Fine hair... |
ORPHA:235 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thick eyebrow, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation, Sy... |
OMIM:619475 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Splenomegaly, Decreased serum zinc, Alopecia of scalp |
OMIM:201100 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coarse hair, Severe B lymphocytopenia, B lymphocytopenia, Coronal craniosynostosis |
ORPHA:83617 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Anemia, Dysmetria |
OMIM:620185 |
Fibular Hemimelia |
|
Craniosynostosis, Thrombocytopenia, Abnormal bone ossification |
ORPHA:93323 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Igg4-Related Kidney Disease |
|
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Eosinophi... |
ORPHA:449395 |
Sarcoidosis |
|
Hemolytic anemia, Alopecia, Eosinophilia, Hypercalcemia, Increased T cell count, Bone cyst, Anemi... |
ORPHA:797 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hypoplastic nipples, Nail dystrophy, Unconj... |
OMIM:620186 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia, Abnormality of extrapyramidal motor... |
ORPHA:79233 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Decreased hemoglobin concentration, Long eyelashes, Thrombocytopenia |
OMIM:619005 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... |
OMIM:612953 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Clumsiness, Hypercholesterolemia, Abnormal circ... |
ORPHA:90674 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal hair morphology, ... |
ORPHA:647 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia... |
OMIM:615512 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune thrombocytopenia, Tremor, Hemiple... |
ORPHA:51 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Bone-marrow foam cells, ... |
ORPHA:646 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Delayed proximal femoral epiphyseal ossification, Increased circulating thyroglobulin level, Neon... |
ORPHA:90673 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Ivory epiphyses of the phalanges of the hand, Neutropenia |
ORPHA:93357 |
Q Fever |
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Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Thrombocytopenia |
ORPHA:781 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Trichiasis, Nail dystrophy, Anemia, Neutropenia |
ORPHA:95455 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
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Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Spasticity |
OMIM:616539 |
Thrombocytopenia-Absent Radius Syndrome |
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Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:619534 |
Listeriosis |
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Brain abscess, Liver abscess, Ataxia, Abscess, Tremor, Abnormal cellular immune system morphology... |
ORPHA:533 |
Jacobsen Syndrome |
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Abnormal eyelash morphology, Spasticity, Thrombocytopenia |
OMIM:147791 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Incoordination, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... |
OMIM:234200 |
Cornelia De Lange Syndrome 1 |
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Curly eyelashes, Highly arched eyebrow, Synophrys, Hirsutism, Low posterior hairline, Hypertonia,... |
OMIM:122470 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Pancytopenia, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic paraplegia, Limb ataxia... |
ORPHA:2072 |
Mitchell-Riley Syndrome |
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Hyperbilirubinemia |
OMIM:615710 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Pituitary Hormone Deficiency, Combined, 6 |
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Hyperbilirubinemia |
OMIM:613986 |
Autosomal Recessive Malignant Osteopetrosis |
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Craniosynostosis, Abnormality of hair texture, Tremor, Splenomegaly, Reduced bone mineral density... |
ORPHA:667 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Sparse scalp hair, Hypoammonemia, Osteomalacia, Clonus, Thrombocytopenia, Fine hair... |
ORPHA:534 |
Aapoaiv Amyloidosis |
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Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Acute Liver Failure |
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Incoordination, Ataxia, Slurred speech, Hyperammonemia, Thrombocytopenia |
ORPHA:90062 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Reduced bone mineral density, Leuko... |
ORPHA:84 |
Hypouricemia, Renal, 1 |
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Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Sparse axillary hair, Microcytic a... |
OMIM:256040 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Thrombocytopenia |
ORPHA:487796 |
Deeah Syndrome |
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Decreased hemoglobin concentration, Thrombocytopenia, Low posterior hairline |
OMIM:619004 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
OMIM:606002 |
Roberts Syndrome |
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Sparse hair, Craniosynostosis, Thrombocytopenia |
ORPHA:3103 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... |
ORPHA:411634 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Delayed epiphyseal ossification, Fine hair, ... |
OMIM:210710 |
Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses |
OMIM:208500 |
Adult-Onset Dystonia-Parkinsonism |
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Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Jacobsen Syndrome |
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Aplasia/Hypoplasia of the eyebrow, Bone marrow hypocellularity, Thrombocytopenia |
ORPHA:2308 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia |
OMIM:619525 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Oligomeganephronia |
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Elevated circulating creatinine concentration |
ORPHA:2260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
22Q11.2 Deletion Syndrome |
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Abnormality of thrombocytes, Splenomegaly, Multiple suture craniosynostosis, Hypoplasia of the th... |
ORPHA:567 |
Osteogenesis Imperfecta |
|
Osteopenia, Ataxia, Osteoporosis, Decreased skull ossification, Tetraparesis, Abnormal cortical b... |
ORPHA:666 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Johanson-Blizzard Syndrome |
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Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen... |
OMIM:243800 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Highly arched eyebrow |
OMIM:620305 |
Digeorge Syndrome |
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Splenomegaly, Anemia, Hemiparesis, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia |
OMIM:188400 |
Noonan Syndrome 1 |
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Woolly hair, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Low posterior ha... |
OMIM:163950 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Thick eyebrow |
OMIM:300896 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis, Hypercalcemia |
ORPHA:29072 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |