Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... |
OMIM:202700 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Neutropenia, Decreased circulating IgA level, Decreased c... |
OMIM:606843 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Panhypogammaglobulinemia, Reduced natural killer cell count, Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Trimethylaminuria |
|
Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Increased circulating antibody level, Extramedullary hematopoiesis, Anemia, Thrombocy... |
OMIM:615285 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:619041 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... |
ORPHA:859 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... |
OMIM:619707 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Agammaglob... |
OMIM:613501 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Partial absence of specific antibody response to Haemophilus infl... |
OMIM:618986 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Neutropenia, Decreased circulating IgA level, Decreased circulat... |
OMIM:613502 |
Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... |
OMIM:226990 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia |
OMIM:616871 |
Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Transient neutropenia, Liver abscess |
OMIM:607676 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... |
OMIM:300835 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Simplified gyral pattern, Thrombocytopenia, Anemia |
OMIM:619302 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:603552 |
Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... |
ORPHA:983 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Simplified gyral pattern, Thrombocytopenia |
OMIM:619301 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... |
OMIM:267500 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... |
OMIM:618849 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... |
OMIM:150550 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia |
OMIM:608898 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic card... |
OMIM:620135 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Reduced natural killer cell activity, Increased circulating Ig... |
OMIM:308240 |
46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Aplasia of the uterus, Primary amenorrh... |
OMIM:273250 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... |
ORPHA:169154 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis |
OMIM:619281 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Slc35A1-Cdg |
|
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Hemochromatosis, Type 3 |
|
Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Idiopathic Aplastic Anemia |
|
Anemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:88 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, Hypergonadotropic ... |
OMIM:618078 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Bone marrow hypocellularity, Ch... |
ORPHA:811 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Thrombocytopenia, B l... |
OMIM:301078 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... |
OMIM:301081 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:601859 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... |
ORPHA:486 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Pancytopenia, Hemophagocytosis, Splenomegaly |
ORPHA:79477 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Neutropenia, Anemia |
OMIM:617056 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular d... |
ORPHA:168563 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level... |
OMIM:619752 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... |
ORPHA:52901 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:615387 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
OMIM:614841 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... |
ORPHA:1916 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
Specific Granule Deficiency 2 |
|
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia |
ORPHA:79312 |
Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reticulocytopenia, Macrocytic a... |
OMIM:275350 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... |
OMIM:212050 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Neutropenia, Anemia |
OMIM:619835 |
Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... |
ORPHA:98850 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
Complete Androgen Insensitivity Syndrome |
|
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Increased serum testosterone level, Ab... |
ORPHA:99429 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired Ig class switch recombination, Increased circulating IgA level, Hemolytic anemia, Neutro... |
OMIM:308230 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... |
OMIM:612965 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:572 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Leukemia, Histiocytosis |
ORPHA:157991 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
Androgen Insensitivity Syndrome |
|
Delayed puberty, Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of... |
ORPHA:754 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... |
ORPHA:101096 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:246400 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Primary amenorrhea, Clitoral hypertrophy, Elevated circulating f... |
OMIM:612964 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... |
OMIM:614837 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, ... |
OMIM:304790 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Testicular Agenesis |
|
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:325124 |
Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Splenomegaly, Azoospermia, I... |
OMIM:235200 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Polymicrogyria, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Splenomegaly |
ORPHA:98848 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Decreased circul... |
OMIM:601495 |
Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
Developmental And Epileptic Encephalopathy 66 |
|
Neutropenia, Anemia |
OMIM:618067 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:603909 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... |
ORPHA:158061 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
Say-Barber-Miller Syndrome |
|
Impaired neutrophil chemotaxis, Decreased circulating IgG level, Transient hypogammaglobulinemia ... |
ORPHA:3132 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hemolytic anemia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:398124 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... |
OMIM:619203 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... |
OMIM:618652 |
Pgm3-Cdg |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Leukopenia... |
ORPHA:443811 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
ORPHA:1959 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
OMIM:618117 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Neutrophilia, Monocytosis |
OMIM:619644 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutropenia |
ORPHA:292 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... |
OMIM:617442 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
Propionic Acidemia |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Anemia |
OMIM:606054 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Thrombocytopenia, Agammaglobulinemia, Neutropenia |
ORPHA:47 |
Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Leukopenia, Hemophagocytosis, Anemia, Impaired neutrophil bactericidal... |
OMIM:214500 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
46,Xy Sex Reversal 10 |
|
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... |
OMIM:616425 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... |
OMIM:308700 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cyclic neutropenia, ... |
ORPHA:2686 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia, Agammaglobulinemia |
OMIM:209920 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:251000 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia |
ORPHA:520 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia, Neutrop... |
OMIM:613989 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Anemia, Abnormal natural killer cell count, Thrombocytopenia, Pancytopenia, Spl... |
ORPHA:158048 |
Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... |
OMIM:308750 |
Felty Syndrome |
|
Anemia, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... |
ORPHA:47612 |
Barth Syndrome |
|
Hypochromic microcytic anemia, Cyclic neutropenia, Granulocytopenia, Neutropenia |
OMIM:302060 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Simplified gyral pattern, Neutropenia |
OMIM:618253 |
Autosomal Agammaglobulinemia |
|
Neutropenia, Agammaglobulinemia |
ORPHA:33110 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Anemia |
OMIM:251110 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:614700 |
Perrault Syndrome 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:614129 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Increased circulating IgE level, Lymphopenia, Increased circulating Ig... |
OMIM:615816 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Anemia, Reduced natural killer cell activity, Thrombocytopenia, Decreased circu... |
ORPHA:540 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the fallopian tube, Primary ameno... |
OMIM:158330 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Lymphopenia, Neutropenia |
OMIM:616395 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst, Abscess, Granuloma, Lymphopenia, ... |
OMIM:618935 |
Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:617690 |
Schimke Immunoosseous Dysplasia |
|
Abnormal immunoglobulin level, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia, ... |
OMIM:242900 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90796 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Lymphopenia, Reticulocytopenia, Thrombocytopenia... |
ORPHA:508542 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... |
OMIM:614842 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Maternal diabetes, Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, A... |
ORPHA:860 |
Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, ... |
ORPHA:85451 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Reduced natura... |
OMIM:608233 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventric... |
ORPHA:324410 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating total IgM, Anemia, Neutropenia, Decreased circulating IgA level, Decreased ... |
OMIM:300755 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:600901 |
3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Anemia, Bone marrow hypocellularity, Lymphopenia, Impa... |
ORPHA:1830 |
Aspergillosis |
|
Increased circulating IgE level, Neutropenia, Eosinophilia |
ORPHA:1163 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... |
OMIM:612541 |
Shwachman-Diamond Syndrome 1 |
|
Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... |
OMIM:260400 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Thrombocytopenia, Acute l... |
ORPHA:3226 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Anemia |
OMIM:251100 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Anemia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:277380 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis |
OMIM:266810 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Thrombocytopeni... |
OMIM:617303 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Splenomegaly, Infertility, E... |
ORPHA:465508 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis |
ORPHA:615 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Lymphopenia, Macrocytic anemi... |
OMIM:250250 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Leukemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia |
OMIM:227650 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Ambiguous genitalia, Atrial septal defect, Tetralogy of Fallot, Ventricul... |
OMIM:618280 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Polycythemia, Bone marrow hypocellularity, Impaired neutrophil chemotaxis, Abnormal... |
ORPHA:2968 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:614702 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Diabetes mellitus, Cardiomyopathy, Diabetes insipidus, Hypothyroidism, Optic ... |
OMIM:222300 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytop... |
OMIM:615952 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Neutropenia, I... |
OMIM:617052 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Hepatosplenomegaly, Hemophagocytosis, Abnormal platelet function, Anemia,... |
ORPHA:167 |
Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Cryptorchidism, Hypoplastic left heart, Ambiguous gen... |
ORPHA:3097 |
Poikiloderma With Neutropenia |
|
Neutropenia, Leukopenia, Splenomegaly |
OMIM:604173 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... |
ORPHA:289548 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Male pseudohermaphrodit... |
ORPHA:168558 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Facial diplegia, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Perrault Syndrome 4 |
|
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... |
OMIM:615300 |
3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:616271 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Ventricular hypertrophy, H... |
OMIM:300280 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... |
OMIM:202010 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Leukemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia,... |
OMIM:227645 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:269920 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... |
OMIM:613179 |
Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Eosinophilia |
OMIM:618092 |
Mogs-Cdg |
|
Hepatosplenomegaly, Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Le... |
ORPHA:79330 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Brain abscess, Liver abscess, Anemia |
ORPHA:54251 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right atrial... |
ORPHA:555874 |
Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
Mulibrey Nanism |
|
Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction |
OMIM:253250 |
Sepsis In Premature Infants |
|
Leukocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:90051 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia |
OMIM:607115 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Vici Syndrome |
|
Leukopenia, Decreased circulating IgG2 level, Cutaneous anergy, Neutropenia, Lymphopenia, Gray ma... |
OMIM:242840 |
Vaginal Atresia |
|
Uterus didelphys, Cervicitis, Primary amenorrhea, Imperforate hymen, Transverse vaginal septum, V... |
ORPHA:65681 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Reticulocytopenia, Hypoplastic anemia, Sideroblastic ane... |
OMIM:557000 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
Fusariosis |
|
Lung abscess, Granuloma, Lymphopenia, Abnormality of the spleen, Brain abscess, Neutropenia |
ORPHA:228119 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... |
OMIM:115197 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Hypothyroidism, Cardiomegaly |
OMIM:601005 |
Wiskott-Aldrich Syndrome |
|
Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Anemia, Lymphopenia, Micr... |
ORPHA:906 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy |
OMIM:619051 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Neutrophilia, Inc... |
OMIM:617099 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Lumbar Syndrome |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... |
ORPHA:83628 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... |
OMIM:617237 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level |
OMIM:618838 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... |
OMIM:615363 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Neutropenia, Lymphopenia, T lymphocytopenia |
OMIM:607944 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgE level, Autoimmune... |
ORPHA:37042 |
Whim Syndrome |
|
Abnormality of neutrophil morphology, Neutropenia, Lymphopenia, Decreased circulating antibody level |
ORPHA:51636 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:256550 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... |
ORPHA:3261 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Neutrophilia |
ORPHA:91547 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Hypospadias |
OMIM:616897 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... |
ORPHA:2041 |
Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Granulomatosis, Impaired oxidative burst, Rectal abscess, Splenomegaly |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Granulomatosis, Impaired oxidative burst, Rectal abscess, Splenomegaly |
OMIM:233710 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... |
ORPHA:331206 |
Omenn Syndrome |
|
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Eosinophilia, Thrombocytopenia, B lym... |
OMIM:603554 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
Psoriasis 14, Pustular |
|
Neutrophilia, Leukocytosis |
OMIM:614204 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Granulomatosis, Impaired oxidative burst, Rectal abscess, Splenomegaly |
OMIM:233690 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Ambiguous genitalia, Fused labia majora, Inc... |
ORPHA:90794 |
Fanconi Anemia, Complementation Group D2 |
|
Anemia, Leukemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia,... |
OMIM:227646 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Primary amenorrhea, Hypoparathyroidism, Septate vagina, Pseudopapilledema, Uterus didelphys, Apla... |
OMIM:146255 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia |
OMIM:618999 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... |
ORPHA:2442 |
Immunodeficiency 89 And Autoimmunity |
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Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Parathyroid hypoplasia, Diabetes mellitus, Hypoparathyroidism, Abnormal heart morphology, Septate... |
ORPHA:2237 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia |
ORPHA:169160 |
Cryptogenic Organizing Pneumonia |
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Neutrophilia, Leukocytosis |
ORPHA:1302 |
Hereditary Folate Malabsorption |
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Thrombocytopenia, Pancytopenia, Megaloblastic anemia, Eosinophilia |
ORPHA:90045 |
Hsd10 Disease, Infantile Type |
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Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Leigh Syndrome |
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Neutropenia, Anemia |
ORPHA:506 |
Aarskog-Scott Syndrome |
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Delayed puberty, Cryptorchidism, Shawl scrotum, Testicular atrophy, Elevated circulating follicle... |
OMIM:305400 |
Isolated Right Ventricular Hypoplasia |
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Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Cohen Syndrome |
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Neutropenia |
ORPHA:193 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly, Hypothyroidism, Cardiomegaly |
OMIM:617713 |
Khan-Khan-Katsanis Syndrome |
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Neutropenia, Lymphopenia, Anemia |
OMIM:618460 |
Diamond-Blackfan Anemia 1 |
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Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Pancreatic hypoplasia, Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, V... |
OMIM:602782 |
Eosinophilic Gastroenteritis |
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Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Herpes Simplex Virus Encephalitis |
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Neutrophilia, Leukocytosis |
ORPHA:1930 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Cryptorchidism, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Hepatome... |
ORPHA:96191 |
Toxic Epidermal Necrolysis |
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Thrombocytopenia, Neutropenia, Anemia |
ORPHA:537 |
Glycogen Storage Disease Ib |
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Splenomegaly, Neutropenia |
OMIM:232220 |
Rothmund-Thomson Syndrome |
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Leukemia, Neutropenia, Aplastic anemia, Anemia |
ORPHA:2909 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Omenn Syndrome |
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Leukocytosis, Anemia, Abnormal lymphocyte morphology, Eosinophilia, Splenomegaly |
ORPHA:39041 |
Trichothiodystrophy |
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Neutropenia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia |
ORPHA:33364 |
Aorta Coarctation |
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Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... |
ORPHA:1457 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Decreased circulating total IgM, Decreased ... |
ORPHA:331235 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Abnormal autonomic nervous system physiology, Impotence, Orthostatic hypotension ... |
OMIM:105210 |
Granulomatous Disease, Chronic, X-Linked |
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Liver abscess, Granulomatosis, Impaired oxidative burst, Granuloma, Rectal abscess, Splenomegaly |
OMIM:306400 |
Rothmund-Thomson Syndrome Type 1 |
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Leukemia, Neutropenia, Aplastic anemia, Anemia |
ORPHA:221008 |
Refsum Disease, Classic |
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Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Sandhoff Disease |
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Hepatosplenomegaly, Hepatomegaly, Impotence, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... |
OMIM:231005 |
Adult-Onset Still Disease |
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Neutrophilia, Bone marrow hypocellularity, Leukocytosis, Splenomegaly |
ORPHA:829 |
Pediatric-Onset Graves Disease |
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Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
Carnitine Palmitoyltransferase I Deficiency |
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Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Pneumocystosis |
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Abnormal neutrophil count, Increased circulating antibody level |
ORPHA:723 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Lymphopenia, Aplasia of the thymus, Eosinophilia, B lymphocytopenia, Abnormally low T cell recept... |
OMIM:602450 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... |
ORPHA:911 |
Heterotaxy, Visceral, 1, X-Linked |
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Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... |
OMIM:306955 |
Rothmund-Thomson Syndrome Type 2 |
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Leukemia, Neutropenia, Aplastic anemia, Anemia |
ORPHA:221016 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Neutropenia |
OMIM:617799 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
Cartilage-Hair Hypoplasia |
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Decreased circulating antibody level, Neutropenia, Anemia |
ORPHA:175 |
Hermansky-Pudlak Syndrome |
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Neutropenia |
ORPHA:79430 |
Beckwith-Wiedemann Syndrome |
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Adrenocortical cytomegaly, Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepat... |
OMIM:130650 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatosplenomegaly, Cardiomegaly, Hepatomegaly |
ORPHA:99931 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
Staphylococcal Necrotizing Pneumonia |
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Neutrophilia, Leukocytosis, Leukopenia |
ORPHA:36238 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... |
OMIM:157640 |
Sickle Cell Disease |
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Hepatomegaly, Priapism, Cholelithiasis, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Craniofaciofrontodigital Syndrome |
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Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicuspid aortic... |
ORPHA:363705 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Hepatosplenomegaly, Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:228426 |
Kikuchi-Fujimoto Disease |
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Leukopenia, Anemia, Thrombocytopenia, Lymphocytosis, Splenomegaly, Neutropenia |
ORPHA:50918 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Pearson Syndrome |
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Hypoplastic spleen, Reticulocytosis, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancy... |
ORPHA:699 |
X-Linked Intellectual Disability, Nascimento Type |
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Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Cardiomegaly, Optic atrophy |
OMIM:619259 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Beck-Fahrner Syndrome |
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Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Cirrhotic Cardiomyopathy |
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Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... |
ORPHA:57777 |
Woodhouse-Sakati Syndrome |
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