| Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... |
OMIM:618204 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:619245 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells |
OMIM:615607 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... |
ORPHA:766 |
| Spermatogenic Failure 11 |
|
Infertility, Abnormal sperm morphology |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... |
OMIM:615897 |
| Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... |
OMIM:603552 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Infertility, Abnormal sperm morphology |
OMIM:608653 |
| Ring Chromosome Y Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... |
ORPHA:261529 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia, Failure to thrive |
OMIM:616022 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... |
OMIM:615518 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Conjugated hyperbilirubinem... |
OMIM:616860 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... |
OMIM:615513 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest |
OMIM:619145 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia |
OMIM:619108 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia, Pigmentary retinopathy |
OMIM:266130 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:231154 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility, Recurrent spontaneous abortion |
OMIM:618432 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Immunodeficiency 72 With Autoinflammation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count |
OMIM:618982 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... |
ORPHA:1646 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... |
ORPHA:169154 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... |
OMIM:300835 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Neutropenia, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:617475 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Failure to thrive |
OMIM:613501 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... |
OMIM:614470 |
| Stormorken Syndrome |
|
Thrombocytopenia, Asplenia, Anemia, Elevated circulating creatine kinase concentration, Howell-Jo... |
OMIM:185070 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Retinal atrophy, Elliptocytosis, Retinal pigment epithel... |
OMIM:616959 |
| Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
OMIM:617243 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... |
ORPHA:3203 |
| Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... |
ORPHA:86841 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Immunodeficiency 68 |
|
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorr... |
OMIM:612310 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Cirrhosis, Lymphopenia, Neutropenia, Anemia, Increa... |
OMIM:604250 |
| Retinal Venous Beading |
|
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... |
OMIM:180080 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617006 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Failure to thriv... |
ORPHA:79312 |
| Immunodeficiency 57 With Autoinflammation |
|
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... |
OMIM:300908 |
| Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
| Agammaglobulinemia 8, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Optic atrophy |
OMIM:598500 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia, Hepatomegaly, Elevated circulating creatine kinase concentration,... |
OMIM:251900 |
| Immunodeficiency 46 |
|
Failure to thrive, Intermittent thrombocytopenia, Neutropenia, Anemia |
OMIM:616740 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:612527 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:616216 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Anemia, Bone ... |
ORPHA:88 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... |
ORPHA:911 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia, Optic atrophy |
ORPHA:289916 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... |
ORPHA:444463 |
| Asherman Syndrome |
|
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... |
ORPHA:137686 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... |
OMIM:617514 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... |
OMIM:150550 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... |
OMIM:312700 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... |
OMIM:619374 |
| Immunodeficiency 55 |
|
Neutropenia, Lymphadenopathy |
OMIM:617827 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells |
OMIM:616098 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Hyperlipidemia... |
ORPHA:79477 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic fibrosis, Asplenia, Hepatomegaly, Cholestasis |
OMIM:615415 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... |
OMIM:618849 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
| Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly |
OMIM:604173 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration, Acanthocytosis |
OMIM:615558 |
| Gracile Bone Dysplasia |
|
Hypocalcemia, Failure to thrive, Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... |
OMIM:618986 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Hypoalbuminemia, Neutropenia |
OMIM:600351 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia |
ORPHA:859 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... |
ORPHA:98870 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... |
OMIM:300853 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... |
OMIM:308240 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Failure to thrive, Leukopenia |
OMIM:229050 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:619220 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... |
OMIM:269200 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Neutropenia |
OMIM:617056 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... |
ORPHA:98850 |
| Autoimmune Lymphoproliferative Syndrome |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:601859 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... |
OMIM:208540 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss, Liver abscess, Abnormality of the pancreas, Elevated circulating C-reactive protein ... |
ORPHA:54251 |
| Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen |
ORPHA:543 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Chronic active hepatitis, Chole... |
OMIM:240300 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... |
OMIM:615559 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... |
OMIM:600802 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Thro... |
OMIM:304790 |
| Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Barth Syndrome |
|
Granulocytopenia, Neutropenia, Failure to thrive |
OMIM:302060 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Neutropenia, Weight loss, Thrombocytopenia, Hepatitis, Recurrent cutaneous abscess ... |
ORPHA:47 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production |
OMIM:614900 |
| Methylmalonic Aciduria, Cblb Type |
|
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Methylmalonic acidemi... |
OMIM:251110 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... |
OMIM:214500 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules |
ORPHA:238459 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... |
ORPHA:101096 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... |
OMIM:308230 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Failure to thrive, Pyrimidin... |
OMIM:258900 |
| Developmental And Epileptic Encephalopathy 66 |
|
Neutropenia, Anemia |
OMIM:618067 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Neutropenia, Failure to thrive |
OMIM:601495 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... |
OMIM:612541 |
| Letterer-Siwe Disease |
|
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Methylmalonic Aciduria, Cbla Type |
|
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Methylmalonic acidemi... |
OMIM:251100 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... |
OMIM:169400 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Primary Ciliary Dyskinesia |
|
Polysplenia, Asplenia, Rod-cone dystrophy |
ORPHA:244 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... |
ORPHA:540 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc... |
ORPHA:231226 |
| Cohen Syndrome |
|
Bull's eye maculopathy, Neutropenia, Small for gestational age, Leukopenia, Optic atrophy, Childh... |
OMIM:216550 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... |
ORPHA:398124 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Neutropenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hyperhomocystinemia |
OMIM:614857 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Cholestasis, Thrombocytopenia, Hepatit... |
ORPHA:292 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... |
OMIM:601775 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... |
OMIM:618534 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... |
OMIM:608203 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Neutropenia, Weight loss, Thrombocytopenia, Hepatomegaly, Anemia,... |
ORPHA:47612 |
| Propionic Acidemia |
|
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis,... |
OMIM:606054 |
| Wiskott-Aldrich Syndrome |
|
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... |
OMIM:301000 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Weight loss, Thrombocytopenia, Hepatomegaly, Abnormali... |
ORPHA:3226 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Neutropenia, Thrombocytopenia, Failure to thrive, Anemia, Large for gestational age, Bone marrow ... |
OMIM:614520 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
| Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Failur... |
OMIM:277380 |
| Cyclic Neutropenia |
|
Peritonitis, Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Tooth abscess, Lymph... |
ORPHA:2686 |
| Methylcobalamin Deficiency Type Cble |
|
Neutropenia, Pancytopenia, Abnormality of the liver, Hypomethioninemia, Failure to thrive, Increa... |
ORPHA:2169 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Hyperbilirubinemia, Hyp... |
ORPHA:1667 |
| Selective Igm Deficiency |
|
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... |
ORPHA:331235 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| Microgastria-Limb Reduction Defects Association |
|
Biliary tract abnormality, Asplenia, Failure to thrive, Absent gallbladder, Splenogonadal fusion |
OMIM:156810 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... |
ORPHA:1916 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Asplenia |
OMIM:619123 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... |
ORPHA:35078 |
| Right Atrial Isomerism |
|
Polysplenia, Abdominal situs ambiguus, Asplenia |
OMIM:208530 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Macrovesicular hepatic steatosis, Chorioretinal hypopigmentation, Neutropenia, Thrombocytopenia, ... |
OMIM:617303 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... |
OMIM:613011 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... |
OMIM:606367 |
| Transcobalamin Ii Deficiency |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Failure to thrive, Macrocytic anemia |
OMIM:275350 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hepatomegaly,... |
OMIM:618278 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... |
ORPHA:486 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Weight loss, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia, Lymph... |
ORPHA:520 |
| Shwachman-Diamond Syndrome |
|
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Thrombocytopenia, Chronic n... |
ORPHA:811 |
| Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy, Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
| Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Asplenia |
ORPHA:99776 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... |
OMIM:613179 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Increased propor... |
ORPHA:167 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Annular pancreas |
ORPHA:210122 |
| Feingold Syndrome 1 |
|
Polysplenia, Asplenia, Accessory spleen, Annular pancreas |
OMIM:164280 |
| Lichtenstein Syndrome |
|
Neutropenia |
OMIM:246550 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia, Failure to thrive |
OMIM:306955 |
| Meckel Syndrome |
|
Abnormal chorioretinal morphology, Accessory spleen, Pancreatic cysts, Pancreatic fibrosis, Cysti... |
ORPHA:564 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... |
ORPHA:508533 |
| Pgm3-Cdg |
|
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... |
ORPHA:443811 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... |
ORPHA:79124 |
| Shwachman-Diamond Syndrome 1 |
|
Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thromb... |
OMIM:260400 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Neutropenia, Failure to thrive, ... |
ORPHA:79284 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Hypomethioninemia, M... |
OMIM:277400 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... |
ORPHA:276 |
| Necrotizing Enterocolitis |
|
Peritonitis, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia, Small for gestational age |
ORPHA:391673 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... |
ORPHA:331206 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Iron deficiency anemia, Hypocalcemia, Reduced proportion of CD4-negative, CD8-negative, alpha-bet... |
ORPHA:37042 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... |
OMIM:614700 |
| Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Ocular albinism, Thrombocytopenia, Hepatomegaly, Reduced natural killer cell count, ... |
OMIM:608233 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
| Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Decreased body weight, Thrombocytopenia, Jaundice, Hepatomegaly, Small... |
ORPHA:90051 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pigmentary retinopathy, Megaloblastic anemia, Neutropenia, Retinal degeneration, Thrombocytopenia... |
ORPHA:79282 |
| Meckel Syndrome, Type 1 |
|
Elevated amniotic fluid alpha-fetoprotein, Accessory spleen, Malformation of the hepatic ductal p... |
OMIM:249000 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Neutropenia, Ocular albinism, Splenomegaly |
OMIM:617050 |
| Autosomal Agammaglobulinemia |
|
Hepatitis, Neutropenia, Failure to thrive |
ORPHA:33110 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia |
OMIM:242900 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia, Decreased body weight, Optic nerve hypoplasia |
OMIM:609053 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Auto... |
ORPHA:1959 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Normocytic anemia, Throm... |
OMIM:617941 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Neutropenia, Failure to thrive |
OMIM:608809 |
| X-Linked Lymphoproliferative Disease |
|
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... |
ORPHA:2442 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Neutropenia, Biliary tract abnormality, Cholangitis, Failure to thrive |
OMIM:209920 |
| Aromatase Deficiency |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Macroorch... |
ORPHA:91 |
| Pearson Syndrome |
|
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Small for gestatio... |
ORPHA:699 |
| Ataxia-Telangiectasia |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Hypoplasia o... |
OMIM:208900 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia |
OMIM:619281 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... |
OMIM:250250 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Leukopenia, Thymoma, Aplasia/Hypoplasi... |
ORPHA:227990 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia... |
OMIM:600901 |
| Adult-Onset Still Disease |
|
Leukocytosis, Generalized lymphadenopathy, Abnormal circulating lipid concentration, Hepatomegaly... |
ORPHA:829 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... |
ORPHA:508542 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia... |
OMIM:227650 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Aspergillosis |
|
Hepatitis, Vitritis, Neutropenia, Eosinophilia |
ORPHA:1163 |
| Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Neutropenia, Hyperuricemia, Hepatomegaly, Pancreatitis, Lipemia retinal... |
OMIM:232220 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Irregular menstruation, Hypoplasia of the uterus, Female infertility, Premature ovari... |
OMIM:110100 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Neutropenia, Failure to thrive, Abscess, Eosinophilia |
OMIM:615816 |
| Fusariosis |
|
Peritonitis, Lung abscess, Lymphopenia, Abnormal retinal morphology, Granuloma, Neutropenia, Abno... |
ORPHA:228119 |
| Fanconi Anemia, Complementation Group C |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia... |
OMIM:227645 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Leukopenia, Thymoma, Aplasia/Hypoplasi... |
ORPHA:227982 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal retinal morphology, Hypoplastic spleen |
ORPHA:89844 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Weight loss, Lymphadenopathy, Thrombo... |
ORPHA:98849 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Hepatic steatosis, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| Kasabach-Merritt Syndrome |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Abnormal lymphatic vessel morphology, Neutrop... |
ORPHA:2330 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Small for gestational age, Neutropenia, Failure to thrive |
OMIM:615471 |
| Kikuchi-Fujimoto Disease |
|
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Weight loss, Thrombocytopenia, Hepatomeg... |
ORPHA:50918 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... |
ORPHA:3261 |
| Relapsing Fever |
|
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... |
ORPHA:91547 |
| Blackfan-Diamond Anemia |
|
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... |
ORPHA:124 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Reduced ha... |
ORPHA:79277 |
| Mirage Syndrome |
|
Lymphopenia, Hyponatremia, Decreased body weight, Thrombocytopenia, Anemia, Leukopenia, Hypoplast... |
OMIM:617053 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... |
ORPHA:251510 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neut... |
OMIM:615952 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Elevate... |
OMIM:617099 |
| Nijmegen Breakage Syndrome |
|
Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:251260 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Neutropenia, Failure to thrive in infancy, Obesity, Optic at... |
ORPHA:193 |
| Cryptosporidiosis |
|
Decreased proportion of CD4-positive helper T cells, Abnormal T cell count |
ORPHA:1549 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
| Pseudoaminopterin Syndrome |
|
Asplenia |
ORPHA:221120 |
| Leigh Syndrome |
|
Neutropenia, Abnormality of the optic nerve, Hyperalaninemia, Anemia, Failure to thrive, Optic at... |
ORPHA:506 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia |
OMIM:607944 |
| Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia... |
OMIM:227646 |
| Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
| Psoriasis 14, Pustular |
|
Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:614204 |
| Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Neutropenia in presence of anti-neutropil antibodies, Failure to thrive in infancy, Pa... |
ORPHA:228426 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Neutropenia, Retinal degeneration, Anemia, M... |
ORPHA:33364 |
| Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Abnormality of retinal pigmentation, Neutropenia, Hepatomegaly, Abnormality of the ... |
ORPHA:175 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Hepatomegaly, Elevated circulating C-reactive protein concentration... |
OMIM:612852 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis |
ORPHA:1302 |
| Hermansky-Pudlak Syndrome |
|
Abnormality of the optic nerve, Neutropenia, Weight loss, Ocular albinism |
ORPHA:79430 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Decreased body weight, Acute myeloid leukemia, Neutropenia, Anemia |
OMIM:601347 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia, Failure to thrive |
OMIM:618005 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1930 |
| Rothmund-Thomson Syndrome |
|
Neutropenia, Calcinosis, Small for gestational age, Aplastic anemia, Anemia, Leukemia |
ORPHA:2909 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Increased hepatic glycogen content, Hepatocellular adenoma, Hepatocellular ... |
ORPHA:79259 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... |
ORPHA:906 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Cryptorchidism, Decreased fertility in females, Ambiguous genitalia, male, Hypergonadotropic hypo... |
ORPHA:90796 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Jaundice, Hepatomegaly, F... |
ORPHA:525731 |
| Toxic Epidermal Necrolysis |
|
Neutropenia, Weight loss, Thrombocytopenia, Pancreatitis, Anemia |
ORPHA:537 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Leukocytosis, Optic disc pallor, Splenomegaly, Neutrophilia, Hepatosplenomegaly, R... |
OMIM:260920 |
| Rothmund-Thomson Syndrome Type 1 |
|
Neutropenia, Calcinosis, Small for gestational age, Aplastic anemia, Anemia, Leukemia |
ORPHA:221008 |
| Whim Syndrome |
|
Lymphadenitis, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Rothmund-Thomson Syndrome Type 2 |
|
Neutropenia, Calcinosis, Small for gestational age, Aplastic anemia, Anemia, Leukemia |
ORPHA:221016 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... |
OMIM:105650 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Pulmonary lymphangiectasia, Annular pancreas |
OMIM:265380 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Oligomenorrhea, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary, Polycysti... |
ORPHA:572333 |
| Zygomycosis |
|
Peritonitis, Splenic abscess, Neutropenia, Hepatitis, Pancreatitis, Retinal detachment, Mediastin... |
ORPHA:73263 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Retinal coloboma, Asplenia, Failure to thrive |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Retinal coloboma, Failure to thrive, Asplenia, Optic atrophy |
ORPHA:261552 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Retinal coloboma, Transient neutropenia, Large for gestational age, Chronic neutropenia |
ORPHA:500095 |
| Mowat-Wilson Syndrome |
|
Retinal coloboma, Asplenia, Decreased body weight |
ORPHA:2152 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis |
ORPHA:36238 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... |
ORPHA:3243 |
| Familial Mediterranean Fever |
|
Peritonitis, Leukocytosis, Elevated circulating amyloid A, Hepatomegaly, Elevated circulating C-r... |
OMIM:249100 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... |
ORPHA:391487 |
| Idiopathic Hypereosinophilic Syndrome |
|
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Chronic hepatitis, C... |
ORPHA:3260 |
| Bloom Syndrome |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells... |
ORPHA:125 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Leukocytosis, Hepatomegaly, Small for gestational age, Anemia, Failure to thri... |
ORPHA:99843 |
| Turner Syndrome |
|
Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Female infertility, Secondary ameno... |
ORPHA:881 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Female infertility, Secondary ameno... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Female infertility, Secondary ameno... |
ORPHA:99228 |
| Monosomy X |
|
Abnormality of the ovary, Gonadoblastoma, Primary amenorrhea, Female infertility, Secondary ameno... |
ORPHA:99226 |
| Sponastrime Dysplasia |
|
Small for gestational age, Neutropenia |
ORPHA:93357 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Neutropenia, Vacuolated lymphocytes |
OMIM:208400 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Neutropenia, Anemia |
ORPHA:95455 |
| Japanese Encephalitis |
|
Neutrophilia, Hyponatremia |
ORPHA:79139 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Testicular seminoma, Ovarian neoplasm |
ORPHA:276399 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma |
OMIM:180295 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
|
OMIM:618272 |
| Pleuropulmonary Blastoma |
|
|
OMIM:601200 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
|
OMIM:138800 |
