| 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 CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
| Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
| Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| 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 |
| Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
| 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 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
| Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
| Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
| Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
| Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
| Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
OMIM:619924 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Hypoplasia of the uterus, Female infertility |
OMIM:617442 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
| Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
| Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:616860 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased proportion of memory T cells, Increased B cell count |
OMIM:618982 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
| Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Pigmentary retinopathy, Neutropenia |
OMIM:266130 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... |
OMIM:612310 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:613501 |
| Stormorken Syndrome |
|
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo... |
OMIM:185070 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
| Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru... |
OMIM:613673 |
| Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... |
OMIM:616959 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... |
OMIM:224120 |
| Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:277 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, T lymphocytopenia |
OMIM:618108 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617006 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... |
OMIM:619846 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Increased serum iron, Neutr... |
OMIM:604250 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Optic atrophy, Neutr... |
ORPHA:79312 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
| Retinal Venous Beading |
|
Vitreous hemorrhage, Retinal neovascularization, Neutropenia, Retinal infarction, Abnormal distri... |
OMIM:180080 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Immunodeficiency 46 |
|
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Hypoglossia With Situs Inversus |
|
Polysplenia, Asplenia |
OMIM:612776 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Optic atrophy, Microcytic anemi... |
OMIM:251900 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... |
ORPHA:911 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia |
OMIM:598500 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
| Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... |
OMIM:619510 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
| Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly, Hyperammonemia, Optic atrophy, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells |
OMIM:616098 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... |
OMIM:300400 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytope... |
ORPHA:88 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158061 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... |
OMIM:619374 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, D... |
OMIM:300853 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic fibrosis, Hepatomegaly, Asplenia, Cholestasis |
OMIM:615415 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Aplasia of the ovary, Primary amenorrhea |
OMIM:614324 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... |
ORPHA:79477 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
| Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia |
OMIM:614038 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
| Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy... |
OMIM:301078 |
| Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Neutropenia |
OMIM:617056 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
| Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen |
ORPHA:543 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... |
OMIM:600802 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... |
OMIM:269200 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... |
OMIM:615559 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Perifoveal ring of hyperautofluorescence, Chronic active hepatitis, Pigmentary re... |
OMIM:240300 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules |
OMIM:617475 |
| Primary Ciliary Dyskinesia |
|
Rod-cone dystrophy, Polysplenia, Asplenia |
ORPHA:244 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils,... |
ORPHA:47 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Chronic hepatitis due to... |
ORPHA:572 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... |
OMIM:304790 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Methy... |
OMIM:251000 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopeni... |
OMIM:214500 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia |
OMIM:614900 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... |
OMIM:614857 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Neutropenia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Methylmalonic acid... |
OMIM:251110 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Hemophagoc... |
ORPHA:540 |
| Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
| Orotic Aciduria |
|
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... |
OMIM:258900 |
| Pelger-Huet Anomaly |
|
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... |
OMIM:169400 |
| Cohen Syndrome |
|
Small for gestational age, Leukopenia, Optic atrophy, Childhood-onset truncal obesity, Neutropeni... |
OMIM:216550 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Propionic Acidemia |
|
Failure to thrive, Neutropenia, Pancreatitis, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Panc... |
OMIM:606054 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia,... |
ORPHA:398124 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Neutropenia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Methylmalonic acid... |
OMIM:251100 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis,... |
ORPHA:292 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Bone marrow... |
ORPHA:47612 |
| Sweeney-Cox Syndrome |
|
Asplenia |
OMIM:617746 |
| Selective Igm Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... |
ORPHA:331235 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Optic neuritis, Hepatosplenomegaly, B lymphocytopenia, Chorioretinitis, Neutropenia |
OMIM:301081 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
| Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Hyperbilir... |
ORPHA:1667 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
| Right Atrial Isomerism |
|
Polysplenia, Abdominal situs ambiguus, Asplenia |
OMIM:208530 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... |
ORPHA:2169 |
| Cyclic Neutropenia |
|
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neutropenia, Pe... |
ORPHA:2686 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Large for gestational age, Neutropenia, Bone marrow hypocellularity, Anemia, T... |
OMIM:614520 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... |
ORPHA:35078 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Hyperhomocystinemia, Cystathioninemia, Meth... |
OMIM:277380 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... |
OMIM:606367 |
| Microgastria-Limb Reduction Defects Association |
|
Failure to thrive, Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Asplenia |
OMIM:156810 |
| Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... |
OMIM:613011 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Chorioretinal hypopigmentation, Macrovesicular hepatic st... |
OMIM:617303 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Abdominal situs inversus |
OMIM:619123 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... |
OMIM:619705 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Anisopoikilocytosis, Neutropenia |
OMIM:619835 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sc... |
OMIM:308230 |
| Feingold Syndrome 1 |
|
Annular pancreas, Accessory spleen, Polysplenia, Asplenia |
OMIM:164280 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Macrocytic anemia, Pancytopenia, Neutropenia, Reticulocytopenia |
OMIM:275350 |
| Mosaic Trisomy 9 |
|
Abnormal liver lobulation, Asplenia |
ORPHA:99776 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia, Lymph... |
ORPHA:520 |
| Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... |
ORPHA:811 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micr... |
OMIM:618278 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... |
ORPHA:508533 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Failure to thrive, Hepatomegaly |
OMIM:604273 |
| Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, T lymphocytopenia, Pancytopenia, Abnormal lymphocyte count, Abnormal natural ... |
ORPHA:79124 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Abnorma... |
ORPHA:167 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... |
OMIM:613179 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Absent gallbladder, Asplenia |
ORPHA:210122 |
| Meckel Syndrome |
|
Pancreatic fibrosis, Accessory spleen, Abnormal chorioretinal morphology, Congenital hepatic fibr... |
ORPHA:564 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl... |
ORPHA:276 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Sideroblas... |
OMIM:557000 |
| Barth Syndrome |
|
Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropenia |
OMIM:302060 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Peritonitis, Hyponatremia, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
| Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Small for gestational age, Pe... |
OMIM:260400 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... |
ORPHA:37042 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count |
OMIM:243700 |
| Sepsis In Premature Infants |
|
Decreased body weight, Elevated circulating C-reactive protein concentration, Hepatomegaly, Leuko... |
ORPHA:90051 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Generalized lymp... |
OMIM:614700 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Hyperlipidemia, Lymphopenia, Pancreatitis, Small for gestational age, Abnormal... |
ORPHA:1830 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Pigmentary retinopathy, Hyperhomocyst... |
OMIM:277400 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Hepatic fibrosis, Neutropenia, Bone... |
OMIM:613989 |
| Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Hepatomegaly, Ocular albinism, Splenomegaly, Hepatosplenomegaly... |
OMIM:608233 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Monocytosis... |
OMIM:612541 |
| X-Linked Lymphoproliferative Disease |
|
Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... |
ORPHA:2442 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice |
ORPHA:464370 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Failure to thrive, Retinal degeneration, Hyperammonemia, Hypomethioninemia,... |
ORPHA:79282 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Hepatitis, Neutropenia |
ORPHA:33110 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Failure to thrive, Neutropenia |
OMIM:608809 |
| Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Optic nerve hypoplasia, Decreased body weight, Neutropenia |
OMIM:609053 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Premature ovari... |
OMIM:110100 |
| Hermansky-Pudlak Syndrome 10 |
|
Neutropenia, Hepatomegaly, Ocular albinism, Splenomegaly |
OMIM:617050 |
| Aromatase Deficiency |
|
Ambiguous genitalia, female, Female infertility, Hypergonadotropic hypogonadism, Primary amenorrh... |
ORPHA:91 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia |
OMIM:209920 |
| Poikiloderma With Neutropenia |
|
Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly |
OMIM:604173 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hypoplastic spleen, Pancytopenia, Bone marrow hy... |
ORPHA:699 |
| Meckel Syndrome, Type 1 |
|
Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation... |
OMIM:249000 |
| Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... |
OMIM:619644 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abno... |
OMIM:242900 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal retinal morphology, Hypoplastic spleen |
ORPHA:89844 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Reticulocytosis, Hepatic hemangioma, Abnormal lymphatic vessel morphology, Neutropeni... |
ORPHA:2330 |
| Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... |
OMIM:600901 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Lymphopenia, Neutropenia |
OMIM:616395 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thr... |
ORPHA:508542 |
| Aspergillosis |
|
Eosinophilia, Hepatitis, Vitritis, Neutropenia |
ORPHA:1163 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... |
ORPHA:227990 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
| Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells |
OMIM:617827 |
| Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... |
ORPHA:829 |
| Shwachman-Diamond Syndrome 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Norm... |
OMIM:617941 |
| Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... |
OMIM:227650 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
| Fusariosis |
|
Lymphopenia, Peritonitis, Abnormality of the spleen, Brain abscess, Abnormal retinal morphology, ... |
ORPHA:228119 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
| Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia |
ORPHA:445038 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
| Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Lymphocytosis, Hepatomegaly, Splenomegaly,... |
ORPHA:50918 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... |
OMIM:250250 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Bone marrow hypocellulari... |
OMIM:227645 |
| Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, T... |
ORPHA:83471 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Failure to thrive, Small for gestational age, Neutropenia |
OMIM:615471 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Hepatomegaly, Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia |
OMIM:306955 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... |
ORPHA:227982 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... |
ORPHA:124 |
| Mirage Syndrome |
|
Decreased body weight, Lymphopenia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thrombo... |
OMIM:617053 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:251260 |
| Congenital Erythropoietic Porphyria |
|
Splenomegaly, Increased erythrocyte protoporphyrin concentration, Anisocytosis, Leukopenia, Hemol... |
ORPHA:79277 |
| Pseudoaminopterin Syndrome |
|
Asplenia |
ORPHA:221120 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... |
OMIM:208900 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Pulmonary lymphangiectasia, Asplenia |
OMIM:265380 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Neutropenia, Obesity, Failure to thrive in in... |
ORPHA:193 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... |
OMIM:617099 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, Lymphopenia, Autoimmune thrombocytopenia, T lymphocytopenia |
OMIM:607944 |
| Leigh Syndrome |
|
Failure to thrive, Neutropenia, Optic atrophy, Abnormality of the optic nerve, Hyperalaninemia, A... |
ORPHA:506 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... |
OMIM:615952 |
| Agammaglobulinemia, X-Linked |
|
Anemia, Neutropenia, B lymphocytopenia, T lymphocytopenia |
OMIM:300755 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Hepatic steatosis, Neutropenia |
OMIM:616271 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Rectal abscess, B lymphocytopenia, Neutropenia |
OMIM:601495 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Bone ma... |
OMIM:227646 |
| Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemia, Microcyt... |
ORPHA:906 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1302 |
| Tetraamelia Syndrome 1 |
|
Asplenia |
OMIM:273395 |
| Psoriasis 14, Pustular |
|
Cholangitis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
OMIM:614204 |
| Cartilage-Hair Hypoplasia |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Abnormality of retinal pigmentation, Abnormality o... |
ORPHA:175 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Cirrhosis, Hepatosplenomegaly, Hepatitis, P... |
ORPHA:228426 |
| Trichothiodystrophy |
|
Retinal degeneration, Macular degeneration, Increased mean corpuscular hemoglobin concentration, ... |
ORPHA:33364 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... |
OMIM:612852 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Hyperlipidemia, Pancreatitis, Hepatomegaly, Abnormal myeloid leukocyte morphol... |
ORPHA:79259 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Abdominal situs ambiguus, Asplenia, Abdominal situs inversus |
OMIM:270100 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, Neutropenia |
OMIM:618005 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia |
ORPHA:1930 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, male, Decreased fertility in males, Micropenis, Hy... |
ORPHA:90796 |
| Hermansky-Pudlak Syndrome |
|
Weight loss, Abnormality of the optic nerve, Ocular albinism, Neutropenia |
ORPHA:79430 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Anemia, Decreased body weight, Acute myeloid leukemia, Neutropenia |
OMIM:601347 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomega... |
ORPHA:525731 |
| Rothmund-Thomson Syndrome |
|
Small for gestational age, Aplastic anemia, Neutropenia, Calcinosis, Anemia, Leukemia |
ORPHA:2909 |
| Toxic Epidermal Necrolysis |
|
Pancreatitis, Anemia, Neutropenia, Weight loss, Thrombocytopenia |
ORPHA:537 |
| Whim Syndrome |
|
Lymphadenitis, Lymphopenia, Abnormality of neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Aplastic anemia, Neutropenia, Calcinosis, Anemia, Leukemia |
ORPHA:221008 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Leukocytosis, Splenomegaly, Rod-cone dystrophy, Lymphadenitis, Hepatosplenomegaly, ... |
OMIM:260920 |
| Zygomycosis |
|
Splenic abscess, Pancreatitis, Peritonitis, Retinal detachment, Brain abscess, Mediastinal lympha... |
ORPHA:73263 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Oligo... |
ORPHA:572333 |
| Diamond-Blackfan Anemia 1 |
|
