| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, 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 |
|
Acute myeloid leukemia, Neutropenia |
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 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
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 |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis |
OMIM:260570 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
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 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... |
OMIM:618986 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Simplified gyral pattern, Anemia, Chronic neutropenia |
OMIM:619302 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Simplified gyral pattern, Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Increased circulating IgE level |
OMIM:607676 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
| Immunodeficiency 102 |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Aut... |
OMIM:301082 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM... |
OMIM:619752 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia |
OMIM:617475 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Abnormal autonomic nervous system physiology, Cardiomegaly |
ORPHA:85447 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:79312 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... |
OMIM:304790 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Neutropenia, Polymicrogyria, Thrombocytopenia |
OMIM:614520 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
| Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... |
OMIM:601495 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Macrophage Activation Syndrome |
|
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... |
ORPHA:158061 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... |
ORPHA:3132 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Neutropenia |
OMIM:620012 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
| Propionic Acidemia |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:606054 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:47 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... |
OMIM:613989 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Simplified gyral pattern, Neutropenia |
OMIM:618253 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
| Felty Syndrome |
|
Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte morphology, T... |
ORPHA:47612 |
| Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
| Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Reduced natural killer cell activity, Splenomegaly, Decreased circulating antibody level, Anemia,... |
ORPHA:540 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... |
OMIM:615816 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Decreased circulating antibody lev... |
OMIM:242900 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, Decreased circulating IgE... |
OMIM:300755 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Sp... |
OMIM:608233 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal p... |
ORPHA:1830 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
| Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:277380 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellularity, N... |
OMIM:617303 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Optic atrophy, Cardiomyopathy, Hypothyroidism, Testicular ... |
OMIM:222300 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Facial diplegia, Testicular atrophy |
OMIM:160900 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hypothyroidism, Spl... |
ORPHA:465508 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| Meacham Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Cry... |
ORPHA:3097 |
| Poikiloderma With Neutropenia |
|
Splenomegaly, Leukopenia, Neutropenia |
OMIM:604173 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Neutropenia |
OMIM:617050 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Neutropenia, Megaloblastic anemia |
ORPHA:79284 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227645 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Absent brainstem auditory responses, External genital hypopla... |
ORPHA:79330 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
| Vici Syndrome |
|
Lymphopenia, Decreased circulating IgG2 level, Decreased T cell activation, Leukopenia, T lymphoc... |
OMIM:242840 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... |
OMIM:557000 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia |
ORPHA:228119 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Neutropenia |
OMIM:618005 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Neutropenia |
OMIM:615471 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... |
ORPHA:37042 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... |
OMIM:617099 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Cardiomegaly |
OMIM:618838 |
| Whim Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... |
OMIM:227646 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
ORPHA:391428 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Leigh Syndrome |
|
Anemia, Neutropenia |
ORPHA:506 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Impotence, Abnormal autonomic nervous system physiology, Orthostati... |
OMIM:105210 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Khan-Khan-Katsanis Syndrome |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:618460 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:537 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Neutropenia |
OMIM:232220 |
| Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
| Rothmund-Thomson Syndrome |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:2909 |
| Trichothiodystrophy |
|
Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia |
ORPHA:33364 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
| Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Rothmund-Thomson Syndrome Type 1 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221008 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Adult-Onset Still Disease |
|
Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity |
ORPHA:829 |
| Pediatric-Onset Graves Disease |
|
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia |
ORPHA:525731 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
| Rothmund-Thomson Syndrome Type 2 |
|
Leukemia, Aplastic anemia, Anemia, Neutropenia |
ORPHA:221016 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia |
OMIM:271510 |
| Cartilage-Hair Hypoplasia |
|
Decreased circulating antibody level, Anemia, Neutropenia |
ORPHA:175 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
| Hermansky-Pudlak Syndrome |
|
Neutropenia |
ORPHA:79430 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Primary amenorrhea... |
OMIM:157640 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... |
ORPHA:228426 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cholelithiasis, Priapism |
OMIM:603903 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Kikuchi-Fujimoto Disease |
|
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia |
ORPHA:50918 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Hy... |
ORPHA:699 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia |
ORPHA:163956 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess |
OMIM:612852 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus |
ORPHA:3320 |
| Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... |
ORPHA:3464 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
| Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
| Glycogen Storage Disease Ic |
|
Cyclic neutropenia |
OMIM:232240 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia |
ORPHA:79259 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia |
ORPHA:500095 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Zygomycosis |
|
Brain abscess, Splenic abscess, Neutropenia |
ORPHA:73263 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries |
ORPHA:137675 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Primary Sclerosing Cholangitis |
|
Splenomegaly, Histiocytosis, Abnormal eosinophil morphology, Hepatosplenomegaly |
ORPHA:171 |
| Pmm2-Cdg |
|
Impaired neutrophil chemotaxis |
ORPHA:79318 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis |
ORPHA:139402 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Cardiomegaly, Secundum atrial ... |
OMIM:300855 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Abnormal aortic valve morphology, Abnorm... |
ORPHA:581 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Familial Mediterranean Fever |
|
Splenomegaly, Leukocytosis, Neutrophilia |
OMIM:249100 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Adrenocortical carcinoma, ... |
ORPHA:116 |
| Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Neutropenia |
ORPHA:95455 |
| Sponastrime Dysplasia |
|
Decreased circulating antibody level, Neutropenia |
ORPHA:93357 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Pancreatic cysts, Hepatosplenomegaly, Aplasia of the uterus, Atrial se... |
OMIM:274000 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Hyp... |
ORPHA:51 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Hypospadias, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Bili... |
OMIM:619991 |
| Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... |
ORPHA:69085 |
| Abetalipoproteinemia |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:14 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Atrial septal defect, Hypoplasia of penis, Overriding aorta, Hyp... |
ORPHA:904 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Elevated circulating thyroid-stimulating ... |
OMIM:256040 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Ventricular septal defect, Bifid uterus, Crypt... |
OMIM:107480 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Uterin... |
OMIM:130050 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Adr... |
OMIM:236680 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Cushing Disease |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:96253 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Ventricular septal defect, Precocious puberty, Cryptorchidism, Aplasia of the uterus... |
OMIM:194190 |
| Coffin-Siris Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... |
OMIM:135900 |
| Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Optic atrophy, Uterine rupture, Erectile dysfunction, Delayed ... |
ORPHA:649 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... |
ORPHA:51608 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Mitral valve prolapse, U... |
ORPHA:286 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:99889 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Hypo... |
OMIM:601803 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
