Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly |
ORPHA:46532 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin |
ORPHA:3319 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... |
OMIM:615285 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... |
OMIM:618987 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Weight loss, Osteoporosis, Anemia, Splenomegaly, Osteolysis |
ORPHA:100024 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:613501 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Immunodeficiency 76 |
|
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Immunodeficiency 13 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... |
OMIM:615518 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia |
OMIM:616873 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Failure to thrive, Intermittent thrombocytopenia |
OMIM:616740 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... |
OMIM:150550 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Omenn Syndrome |
|
B lymphocytopenia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B ly... |
OMIM:603554 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Lymphopenia |
ORPHA:277 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Microcytic anemia, Throm... |
ORPHA:848 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased proportion of class-sw... |
OMIM:615513 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... |
OMIM:618108 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Folate Malabsorption, Hereditary |
|
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... |
ORPHA:169154 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
Hemochromatosis, Type 3 |
|
Anemia, Neutropenia, Lymphopenia |
OMIM:604250 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
ORPHA:88 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Specific Granule Deficiency 2 |
|
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Osteopenia, Thromboc... |
OMIM:617475 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Osteoporosis, Anemia, Abnorma... |
ORPHA:98850 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Failure to thrive, Splenomegaly, Increased proportion autoreactive unresp... |
OMIM:618534 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... |
OMIM:308240 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Osteoporosis, Persistence of hemoglobin F, Splenomegaly, Red... |
ORPHA:231222 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... |
ORPHA:101096 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Failure to thrive, Reduced red cell adenosine deaminase level, Splenomegaly, A... |
OMIM:102700 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Osteopenia, Acute myeloid leuke... |
ORPHA:486 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... |
ORPHA:158057 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... |
ORPHA:86843 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Barth Syndrome |
|
Failure to thrive, Granulocytopenia, Neutropenia |
OMIM:302060 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production |
OMIM:614900 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatospl... |
ORPHA:331206 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive |
OMIM:617718 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Lichtenstein Syndrome |
|
Osteoporosis, Neutropenia |
OMIM:246550 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Failur... |
ORPHA:572 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Reduced natural killer cell count, Decreased proportion of CD4-posi... |
OMIM:619510 |
Pelger-Huet Anomaly |
|
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... |
OMIM:169400 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Neutropenia, Small for gestational age, Failure to t... |
OMIM:260400 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
Felty Syndrome |
|
Neutropenia, Weight loss, Abnormal lymphocyte morphology, Anemia, Bone marrow hypocellularity, Sp... |
ORPHA:47612 |
Diamond-Blackfan Anemia 6 |
|
Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Failure to thrive, Anemia, Bone marrow hypocellularity, Large for gestational age, T... |
OMIM:614520 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Decreased proportion of CD4+CD... |
OMIM:606367 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, Anemia, Erythr... |
OMIM:612541 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Failure to thrive, Anemia, Autoimmune thrombocytop... |
OMIM:304790 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Failure to thrive, Reticulocytopenia, Pancytopenia |
OMIM:275350 |
Retinal Venous Beading |
|
Neutropenia |
OMIM:180080 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Neutropenia, Anemia, Osteopenia, Lymphopenia, Thrombocytopenia |
OMIM:242900 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly |
ORPHA:79477 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypochromic microcytic anemia, Osteoporosis, Persistence of hemoglo... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Anisopoikilocytosis, Hypochromic microcytic anemia, Osteoporosis, S... |
ORPHA:231214 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Osteoporosi... |
ORPHA:2169 |
Propionic Acidemia |
|
Neutropenia, Failure to thrive, Osteoporosis, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:606054 |
Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Fa... |
OMIM:614700 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... |
ORPHA:508542 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Neutropenia |
OMIM:600351 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia |
ORPHA:398124 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal natural killer ce... |
ORPHA:158061 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Weight loss, Anemia, Pancytopenia, Thrombocytopenia |
ORPHA:520 |
Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Weight loss, Anemia, Throm... |
ORPHA:47 |
Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:251110 |
Congenital Disorder Of Glycosylation, Type Iif |
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Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... |
ORPHA:35078 |
Congenital Enterovirus Infection |
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Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia |
ORPHA:292 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomegaly |
OMIM:616084 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia |
OMIM:612562 |
Methylmalonic Aciduria, Cbla Type |
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Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:251100 |
Hereditary Methemoglobinemia |
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Methemoglobinemia, Small for gestational age |
ORPHA:621 |
X-Linked Lymphoproliferative Disease |
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Increased B cell count, B lymphocytopenia, Increased T cell count, Bone marrow hypocellularity, S... |
ORPHA:2442 |
Hemophagocytic Syndrome Associated With An Infection |
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Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto... |
ORPHA:158048 |
Shwachman-Diamond Syndrome |
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Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Chediak-Higashi Syndrome |
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Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
Cyclic Neutropenia |
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Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Neutropenia, Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia |
OMIM:277380 |
Cartilage-Hair Hypoplasia |
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Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Cohen Syndrome |
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Small for gestational age, Neutropenia, Childhood-onset truncal obesity, Leukopenia |
OMIM:216550 |
Blackfan-Diamond Anemia |
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Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Neutropenia, Small for gestational age, Failure to thr... |
ORPHA:1830 |
Thymoma |
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Imbalanced hemoglobin synthesis, Leukemia, Weight loss, Pure red cell aplasia, Aplastic anemia |
ORPHA:99867 |
Saul-Wilson Syndrome |
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Neutropenia |
OMIM:618150 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Failure to thrive, Neutropenia |
OMIM:608809 |
Necrotizing Enterocolitis |
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Leukocytosis, Neutropenia, Thrombocytopenia, Small for gestational age |
ORPHA:391673 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Failure to thrive, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Severe B lymphocy... |
ORPHA:293978 |
Autosomal Agammaglobulinemia |
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Failure to thrive, Neutropenia |
ORPHA:33110 |
Fanconi Anemia, Complementation Group E |
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Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... |
OMIM:600901 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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Obesity, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Fanconi Anemia, Complementation Group A |
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Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thromb... |
OMIM:227650 |
Immunodeficiency 23 |
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Neutropenia, Failure to thrive, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Neutropenia, Failure to thrive, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
OMIM:308230 |
Lead Poisoning |
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Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age, Anemia, C... |
ORPHA:330015 |
Wolcott-Rallison Syndrome |
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Iron deficiency anemia, Decreased body weight, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Hermansky-Pudlak Syndrome 2 |
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Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... |
OMIM:608233 |
Kasabach-Merritt Syndrome |
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Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Generalized osteoporosis... |
ORPHA:391487 |
Fanconi Anemia, Complementation Group C |
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Neutropenia, Small for gestational age, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocy... |
OMIM:227645 |
Shwachman-Diamond Syndrome 2 |
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Failure to thrive, Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
Familial Hemophagocytic Lymphohistiocytosis |
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Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
ORPHA:540 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Failure to thrive, Neutropenia, Osteopenia |
OMIM:618005 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Failure to thrive, Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
Fanconi Anemia, Complementation Group I |
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Decreased body weight, Neutropenia, Bone marrow hypocellularity |
OMIM:609053 |
Mucopolysaccharidosis-Plus Syndrome |
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Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia |
OMIM:617303 |
Bare Lymphocyte Syndrome, Type Ii |
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Failure to thrive, Neutropenia |
OMIM:209920 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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B lymphocytopenia, Osteopenia, Reduced natural killer cell count, Decreased proportion of CD4-pos... |
ORPHA:221139 |
Sepsis In Premature Infants |
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Leukocytosis, Neutropenia, Small for gestational age, Anemia, Splenomegaly, Thrombocytopenia, Dec... |
ORPHA:90051 |
Wiskott-Aldrich Syndrome |
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Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... |
ORPHA:906 |
3-Methylglutaconic Aciduria Type 7 |
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Infection associated neutropenia, Neutropenia, Bone marrow hypocellularity |
ORPHA:445038 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Neutropenia, Autoimmune thrombocytopenia, Lymphopenia, Sclerosis of skull base, T lymphocytopenia |
OMIM:607944 |
Rothmund-Thomson Syndrome |
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Neutropenia, Small for gestational age, Leukemia, Anemia, Reduced bone mineral density, Osteopeni... |
ORPHA:2909 |
Nijmegen Breakage Syndrome |
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B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
Aspergillosis |
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Eosinophilia, Neutropenia |
ORPHA:1163 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Failure to thrive, Neutropenia, Small for gestational age |
OMIM:615471 |
Chédiak-Higashi Syndrome |
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Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Vacuolated lymphocytes, A... |
ORPHA:167 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in presence of anti-neutropil an... |
ORPHA:37042 |
Hermansky-Pudlak Syndrome 10 |
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Neutropenia, Splenomegaly |
OMIM:617050 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Fanconi Anemia, Complementation Group D2 |
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Neutropenia, Small for gestational age, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocy... |
OMIM:227646 |
Alg12-Cdg |
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Abnormal bone ossification, Thrombocytopenia, B lymphocytopenia, Failure to thrive |
ORPHA:79324 |
Rothmund-Thomson Syndrome Type 1 |
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Neutropenia, Small for gestational age, Leukemia, Anemia, Osteopenia, Abnormal trabecular bone mo... |
ORPHA:221008 |
Nk-Cell Enteropathy |
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Increased T cell count |
ORPHA:263665 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
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Anemia, Acute myeloid leukemia, Decreased body weight, Neutropenia |
OMIM:601347 |
Fusariosis |
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Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma |
ORPHA:228119 |
Rothmund-Thomson Syndrome Type 2 |
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Neutropenia, Small for gestational age, Leukemia, Anemia, Osteopenia, Abnormal trabecular bone mo... |
ORPHA:221016 |
Trichothiodystrophy |
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Neutropenia, Craniosynostosis, Anemia, Osteopenia, Increased bone mineral density, Increased mean... |
ORPHA:33364 |
Glycogen Storage Disease Ib |
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Osteoporosis, Neutropenia |
OMIM:232220 |
Whim Syndrome |
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Lymphopenia, Neutropenia, Abnormality of neutrophil morphology |
ORPHA:51636 |
Diamond-Blackfan Anemia 1 |
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Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Failure to thrive, Cong... |
OMIM:105650 |
Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Weight loss, Neutropenia |
ORPHA:537 |
Immunodeficiency 82 With Systemic Inflammation |
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B lymphocytopenia, Decreased proportion of naive T cells, Weight loss, Anemia, Splenomegaly, Redu... |
OMIM:619381 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Coronal craniosynostosis, B lymphocytopenia, Severe B lymphocytopenia, Failure to thrive |
ORPHA:83617 |
Cartilage-Hair Hypoplasia |
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Neutropenia, Failure to thrive, Anemia, Abnormal bone ossification, Abnormally ossified vertebrae |
ORPHA:175 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
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Absent circulating B cells |
OMIM:307200 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Delayed ossification of carpal bones, Neutropenia, Osteopenia |
OMIM:271510 |
Leigh Syndrome |
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Anemia, Neutropenia, Failure to thrive |
ORPHA:506 |
Kikuchi-Fujimoto Disease |
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Neutropenia, Leukopenia, Weight loss, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia |
ORPHA:50918 |
Cohen Syndrome |
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Obesity, Failure to thrive in infancy, Neutropenia |
ORPHA:193 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
Pearson Syndrome |
|
Neutropenia, Small for gestational age, Anemia, Bone marrow hypocellularity, Splenomegaly, Reticu... |
ORPHA:699 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Neutropenia |
ORPHA:79430 |
Sarcoidosis |
|
Bone cyst, Leukopenia, Increased T cell count, Weight loss, Anemia, Thrombocytopenia, Eosinophili... |
ORPHA:797 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neutropenia, Recurrent cutaneous abscess formation |
ORPHA:163956 |
Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia, Osteolysis |
ORPHA:73263 |
Sponastrime Dysplasia |
|
Ivory epiphyses of the phalanges of the hand, Neutropenia, Delayed epiphyseal ossification, Small... |
ORPHA:93357 |
Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |