Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma |
OMIM:609265 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Decreased proportion of CD3-positive T cells, Recurrent gastroe... |
OMIM:615615 |
Ovarian Cancer |
|
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma |
OMIM:167000 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Melanoma, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Primary peritoneal carcino... |
ORPHA:145 |
Glioma Susceptibility 9 |
|
Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung, Astrocytoma |
OMIM:616568 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Lymphoma, Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian carcinoma |
OMIM:613399 |
Immunodeficiency 79 |
|
Decreased proportion of CD4-positive T cells |
OMIM:619238 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:604370 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:615513 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Recurrent respiratory infections, Chronic mucocutaneous c... |
OMIM:618204 |
Serrated Polyposis Syndrome |
|
Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta... |
ORPHA:157798 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, Decreased proportion o... |
OMIM:312863 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia |
OMIM:131440 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Thrombocytopenia, Decreased proportion of CD8-positive T ce... |
OMIM:614493 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... |
OMIM:606843 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm |
OMIM:616534 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Decreased CD4:CD8 ratio, Decr... |
OMIM:615897 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Melanoma-Pancreatic Cancer Syndrome |
|
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... |
OMIM:606719 |
Li-Fraumeni Syndrome |
|
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... |
ORPHA:524 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... |
OMIM:151623 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Splenomegaly, Panhypogammaglobulinemia, Recurrent candida infec... |
OMIM:269840 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Nut Midline Carcinoma |
|
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... |
ORPHA:443167 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Splenomegaly, Thrombocytopenia, Erythroid hyperplasia, Refractory anemia with r... |
OMIM:133180 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... |
OMIM:608957 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis |
OMIM:166000 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis, Recurrent infections |
OMIM:235900 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... |
OMIM:605258 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia, Acute myeloid leukemia |
OMIM:252270 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... |
ORPHA:263458 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... |
OMIM:610163 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Maffucci Syndrome |
|
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breas... |
ORPHA:163634 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD3-positive T cells, Recurrent lower respiratory tract infections, Decre... |
ORPHA:169154 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613500 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Lymphopenia, Decreased circ... |
OMIM:300988 |
N Syndrome |
|
Leukemia, Neoplasm, Cryptorchidism, Hypospadias |
OMIM:310465 |
Lynch Syndrome 4 |
|
Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma |
OMIM:614337 |
Desmoid Disease, Hereditary |
|
Breast carcinoma, Desmoid tumors, Colon cancer, Colorectal polyposis |
OMIM:135290 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615617 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Nep... |
OMIM:613029 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgA level, Recurrent infections, Autoimmune thrombocyto... |
OMIM:618534 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis |
OMIM:614569 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Goiter, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Multinodular goite... |
OMIM:180295 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG leve... |
OMIM:618987 |
Muir-Torre Syndrome |
|
Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Adenoma sebaceum, Mali... |
OMIM:158320 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Recurrent viral pneumonia, Recurrent viral upper r... |
OMIM:619773 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Recurrent bacterial infections, Decr... |
OMIM:613502 |
Subependymoma |
|
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... |
ORPHA:251639 |
Ependymoma |
|
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... |
ORPHA:251636 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Decrease... |
OMIM:613493 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:611926 |
Tumor Predisposition Syndrome 2 |
|
Colon cancer, Meningioma, Juvenile type ovarian granulosa cell tumor, Uveal melanoma, Schwannoma,... |
OMIM:619975 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased serum leptin, Insulin resistance, Increased intraabdominal fat, Decrease... |
ORPHA:79085 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 |
ORPHA:140941 |
Adult Idiopathic Neutropenia |
|
Recurrent infections, Helicobacter pylori infection, Recurrent bacterial infections, Lymphopenia,... |
ORPHA:2688 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... |
OMIM:608106 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... |
OMIM:617241 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:50944 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Leukemia, Myelodysplasia, Thrombocytopenia, Neutropenia |
OMIM:614082 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Type II diabetes mellitus, Increased adipose tissue, Hyperinsulinemia |
ORPHA:71529 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... |
OMIM:619707 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Thrombocytopenia... |
ORPHA:169079 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ... |
ORPHA:859 |
Familial Multinodular Goiter |
|
Renal cell carcinoma, Pleuropulmonary blastoma, Testicular seminoma, Multinodular goiter, Colorec... |
ORPHA:276399 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Reduced antigen-specific T cell proliferation, Monocytopenia, A... |
OMIM:615206 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
Breast Cancer |
|
Breast carcinoma |
OMIM:114480 |
Gonadoblastoma |
|
Dysgerminoma, Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Abnormality o... |
ORPHA:206484 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level |
OMIM:247800 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance |
OMIM:614662 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young |
OMIM:613370 |
Lipe-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the n... |
ORPHA:435660 |
Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Recurrent lower respirator... |
OMIM:616005 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, Co... |
ORPHA:70593 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Recurrent bacterial infections, Decreased circulating IgA level,... |
OMIM:612692 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility |
OMIM:619145 |
Lymphedema, Primary, With Myelodysplasia |
|
Verrucae, Decreased CD4:CD8 ratio, Leukemia, Myelodysplasia, Pancytopenia, Acute myeloid leukemia |
OMIM:614038 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Refractory anemia, Myelodysplasia, Lymphoma, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level |
OMIM:615238 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Cidec-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Loss of facia... |
ORPHA:435651 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Leukopenia, Sepsis, Lymphopenia, Impaired T cell function, Lack of T ce... |
OMIM:267500 |
Thymoma, Familial |
|
Thymoma, Neoplasm |
OMIM:274230 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the pancreas, Neoplasm of the lung, Ovarian neoplasm, Neoplasm of the central... |
ORPHA:83469 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Neutropenia, Reduced natural killer cell count, Panhypogammaglo... |
OMIM:615214 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... |
OMIM:212050 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Myelodysplasia, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly... |
ORPHA:231401 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Myelodysplasia, Multiple lineage myelodysplasia, Acute myeloid leukemia |
ORPHA:98827 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia, Recurrent infections |
OMIM:616941 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia, Pancyto... |
OMIM:619041 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:601859 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Leukemia, Myeloid leukemia, Pancytopenia, Aplastic anemia |
OMIM:614743 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly |
OMIM:619164 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased... |
OMIM:618944 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Verrucae, Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Acquired Ichthyosis |
|
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma |
ORPHA:454 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoproliferative disorder, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopen... |
OMIM:614470 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... |
OMIM:607271 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Recurrent o... |
OMIM:618982 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Elevated circulating follicle stimulating hormone level, Streak ovary, Elevated... |
OMIM:615723 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lymphopenia, Recurrent otitis m... |
ORPHA:277 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Hepatosplenomegaly, Recurrent ur... |
OMIM:619802 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone ... |
ORPHA:71526 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy |
ORPHA:79084 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Acute lymphoblastic leukemia, Nephroblastoma, Acute myeloid leukemia, Hepatospl... |
ORPHA:158057 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... |
OMIM:301082 |
Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Recurrent otitis media, R... |
OMIM:608971 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Aplastic anemia, Hemophagocytosis, Reduced natural killer cell ... |
OMIM:308240 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... |
OMIM:619824 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Abnormal T cell morphology, Recurrent bacterial infections, Recurr... |
OMIM:613501 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent bacterial infections, Lymphopenia, Recurrent fungal infecti... |
OMIM:614868 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Cervical intraepithelial neoplasia, Myelodysplasia, Ly... |
OMIM:614172 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Agammaglobulinemia, Decreased lympho... |
OMIM:615592 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Lymphopenia, Recurrent otitis media, Recurrent pneumonia, B lymphocytope... |
OMIM:615518 |
Cutaneous Neuroendocrine Carcinoma |
|
Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplasm, Multiple myeloma, N... |
ORPHA:79140 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... |
OMIM:602450 |
Immunodeficiency 54 |
|
Lymphoproliferative disorder, Reduced natural killer cell count, Failure to thrive, Adrenal insuf... |
OMIM:609981 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Ollier Disease |
|
Hemangioma, Neoplasm, Precocious puberty, Anemia, Visceral angiomatosis, Multiple enchondromatosi... |
ORPHA:296 |
Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial skin infections... |
ORPHA:217390 |
Dohle Bodies And Leukemia |
|
Anemia, Leukocyte inclusion bodies, Acute myeloid leukemia |
OMIM:223350 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Ataxia, Infertility, Azoospermia, Cerebellar atrophy |
OMIM:613909 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoatrophy |
OMIM:613877 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Abnormal l... |
OMIM:609529 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperinsulinemia, ... |
OMIM:604367 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Progressive cerebellar ataxia, Azoospermia, Male infertility, Cerebellar atrophy |
ORPHA:276183 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system |
ORPHA:2221 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... |
OMIM:601457 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent respiratory infections, Recurrent viral infections, Decreased CD4:CD8 ratio, Decreased ... |
OMIM:300853 |
46,Xy Sex Reversal 6 |
|
Dysgerminoma, Gonadoblastoma, Clitoral hypertrophy, Sex reversal, Chordee, Gonadal dysgenesis, Hy... |
OMIM:613762 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent gastroenteritis, Chronic... |
OMIM:615607 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... |
OMIM:618969 |
Storage Pool Platelet Disease |
|
Myelodysplasia, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Neoplasm of the thyroid gland, Visceral angiomatosis, Hamartoma, Neoplasm of the breast, Ovarian ... |
ORPHA:137608 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia, Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Abnormal alpha granule content, Myelodysplasia, Thrombocytopenia, Abnor... |
OMIM:601399 |
Benign Cephalic Histiocytosis |
|
Histiocytosis |
ORPHA:157997 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Sarcoma |
ORPHA:66661 |
Good Syndrome |
|
Aplasia/Hypoplasia of the thymus, Thymoma, Mediastinal lymphadenopathy, Anemia, Diabetes mellitus... |
ORPHA:169105 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Reduced subcutaneous adipose tissue,... |
OMIM:612526 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Myelodysplasia, Multiple lineage myelo... |
ORPHA:86841 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Adenocarcinoma of the small intestine, Leukemia, Non-Hodgkin lymphoma, A... |
OMIM:276300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Recurrent infections, Leukopenia, Extramedullary hematopoiesis, Anemia, Increased circulating ant... |
OMIM:615285 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Autoim... |
OMIM:619846 |
Obesity And Hypopigmentation |
|
Polyphagia, Red hair, Hyperinsulinemia |
OMIM:620195 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
46,Xy Sex Reversal 10 |
|
Dysgerminoma, Perineal hypospadias, Decreased testicular size, Micropenis, Ambiguous genitalia, G... |
OMIM:616425 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... |
OMIM:619281 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Partial absence of specific antibody response to tetanus vaccin... |
OMIM:618108 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Recurrent lower res... |
OMIM:619774 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Recurrent respiratory infections, Leukopenia, Partial absence of specific ant... |
OMIM:618986 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Increased circulating IgA level, Impaired Ig class switch recombination, Hemolytic anemia, Sepsis... |
OMIM:308230 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Recurrent respiratory infections, Decreased circulating t... |
OMIM:619510 |
Wt Limb-Blood Syndrome |
|
Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:194350 |
Cowden-Like syndrome |
|
Breast carcinoma, Uterine leiomyoma, Endometrial carcinoma, Papillary thyroid carcinoma |
OMIM:612359 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Maternal diabetes, Neonatal hypoglycemia, Fasting hypoglycemia, Excessive insulin res... |
ORPHA:324575 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... |
OMIM:618261 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent bacterial ... |
ORPHA:911 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... |
OMIM:611521 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyoma, Multiple cutaneous leiomyomas, Papillary renal cell carcinoma type 2, Uterin... |
ORPHA:523 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Diabetes mellitus, Polydipsia, Hyperglycemia |
OMIM:222100 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, B-cell lymphoma, Splenomegaly |
OMIM:619437 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea |
OMIM:602390 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Increased circulating antibody level, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Diabetes mellitus, Fine hair, Diabetes insipidus, Type II diabetes mellitus, Insuli... |
ORPHA:181393 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Failure to thri... |
OMIM:605724 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Maternal diabetes, Fasting hypoglycemia, Excessive insulin response to glucagon test,... |
ORPHA:276580 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma... |
ORPHA:314478 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... |
OMIM:603909 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cells, Recurrent bacterial ... |
ORPHA:276 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Recurrent upper and lower respiratory tract infections, Abnormal B cell count... |
ORPHA:331206 |
Immunodeficiency 52 |
|
Recurrent infections, Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, L... |
OMIM:617514 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal... |
OMIM:600802 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... |
ORPHA:168563 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent fungal infections, Decreased proportion of CD4-positive helper T cells, Lack of T cell ... |
ORPHA:572 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Papilloma, Colon cancer, Juvenile gastrointestinal polyposis, Multiple ga... |
ORPHA:480536 |
Frasier Syndrome |
|
Male pseudohermaphroditism, Ovarian gonadoblastoma, Gonadal dysgenesis |
OMIM:136680 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Colorectal Cancer |
|
Renal cell carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis co... |
OMIM:114500 |
Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Anemia, Pancytopenia, Acute myeloid leukemia |
OMIM:616435 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
Familial Colorectal Cancer Type X |
|
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Renal neoplasm, ... |
ORPHA:440437 |
Addison Disease |
|
Delayed puberty, Premature ovarian insufficiency, Thymoma, Adrenal hypoplasia, Normocytic anemia,... |
ORPHA:85138 |
Ovarian Fibroma |
|
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Gonadal calcification, Ovarian fibr... |
ORPHA:314473 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Recurrent viral infections, ... |
OMIM:243700 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Parathyroid carcinoma, Meningioma, Increased circulating cortisol level, Decreased male ... |
ORPHA:652 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
Lhermitte-Duclos Disease |
|
Neoplasm of the thyroid gland, Ovarian neoplasm, Fibroadenoma of the breast, Trichilemmoma |
ORPHA:65285 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Sarcoma |
ORPHA:626 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyoma, Renal cell carcinoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Cuta... |
OMIM:150800 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Hepatosplenomegaly, Recurrent respiratory infections, Decreased circulating total IgM, Impaired l... |
ORPHA:35078 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... |
ORPHA:137686 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... |
OMIM:233420 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Reduced natural killer cell count, Decreased circ... |
OMIM:241600 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... |
OMIM:300310 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia, Obesity |
OMIM:615703 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... |
OMIM:209950 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Papular Xanthoma |
|
Histiocytosis |
ORPHA:158008 |
Autoimmune Polyendocrinopathy Type 3 |
|
Graves disease, Thymoma, Leukopenia, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Aut... |
ORPHA:227982 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Werner Syndrome |
|
Neoplasm, Melanoma, Cutaneous melanoma, Renal neoplasm, Squamous cell carcinoma, Meningioma, Hypo... |
ORPHA:902 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Autoimmune Polyendocrinopathy Type 4 |
|
Graves disease, Thymoma, Leukopenia, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Aut... |
ORPHA:227990 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Fasting hypoglycemia, Excessive insulin response to glucagon test, Agitation, Hyperin... |
ORPHA:276575 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Recurrent viral infections, Lymphopenia, Reduced delayed hypersensitivity, Re... |
OMIM:242700 |
Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Delayed puberty, Testicular... |
ORPHA:52901 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Myelodysplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leu... |
OMIM:619151 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... |
ORPHA:529970 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Glucose intolerance, Attention deficit hyperactivity disorder, Hyperinsulinemia |
ORPHA:369873 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Breast carcinoma, Ovarian carcinoma, Failure to thrive, Chromosome breakage, Ovarian neop... |
OMIM:617883 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:615767 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Ataxia-Telangiectasia |
|
Delayed puberty, Aplasia/Hypoplasia of the thymus, Neoplasm, Diabetes mellitus, Polycystic ovarie... |
ORPHA:100 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level, Recurrent staphylococcal infections, Transient ne... |
OMIM:607676 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Cryptorchidism, Testicular seminoma, Acute leukemia |
ORPHA:281090 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Thymoma, Neoplasm, Hashimoto thyroiditis |
OMIM:159400 |
Cowden Syndrome 1 |
|
Goiter, Carcinoma, Meningioma, Breast carcinoma, Lymphopenia, Ovarian carcinoma, Varicocele, Hama... |
OMIM:158350 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Diabetes mellitus, Prem... |
ORPHA:280365 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Obesity, Hyperinsulinemia... |
ORPHA:66628 |
Perrault Syndrome 4 |
|
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... |
OMIM:615300 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Impaired vibratory sensation, Hypergonadotropic hypogonadism |
OMIM:613724 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Lynch Syndrome |
|
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Colon cancer, Ne... |
ORPHA:144 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Generalized lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue... |
ORPHA:363400 |
Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia |
OMIM:615555 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Benign neoplasm of the cen... |
ORPHA:2591 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Schnitzler Syndrome |
|
Increased circulating IgM level, Leukocytosis, Splenomegaly, Anemia |
ORPHA:37748 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Obesity, Hyperinsulinemia... |
ORPHA:179494 |
46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Ataxia... |
ORPHA:243 |
Retinoblastoma |
|
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma |
OMIM:180200 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Hemangioma, Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia,... |
ORPHA:486 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Chronic (near) absent circu... |
OMIM:614699 |
Gordon Holmes Syndrome |
|
Oligomenorrhea, Primary amenorrhea, Ataxia, Chorea, Hypogonadotropic hypogonadism, Secondary amen... |
OMIM:212840 |
Selective Igm Deficiency |
|
Decreased specific antibody response to vaccination, Decreased proportion of CD3-positive T cells... |
ORPHA:331235 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Leptin Receptor Deficiency |
|
Polyphagia, Abnormal eating behavior, Delayed puberty, Diabetes mellitus, Decreased response to g... |
OMIM:614963 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Meningioma, Leukemia, Nephroblastoma |
OMIM:602501 |
Rhabdoid Tumor |
|
Renal neoplasm, Neoplasm of the liver, Anemia, Thrombocytopenia, Neoplasm of the central nervous ... |
ORPHA:69077 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Excessive insulin response to glucagon test, Agitation, Recurrent hypoglycemia, React... |
ORPHA:276556 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:614069 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents, Anemia, Bone marrow hypocellularity, Thrombo... |
OMIM:617243 |
Neutrophilia, Hereditary |
|
Neutrophilia, Myelodysplasia, Splenomegaly |
OMIM:162830 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Hyperthyroidism, Type II diabetes mellitus, Hypothyroidism, Iron deficiency an... |
OMIM:269200 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... |
ORPHA:247806 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Gait disturbance, Hypogonadism |
ORPHA:1875 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Peripheral Primitive Neuroectodermal Tumor |
|
Uterine neoplasm, Anemia, Neoplasm of the pancreas, Brain neoplasm, Peripheral primitive neuroect... |
ORPHA:370348 |
Muir-Torre Syndrome |
|
Renal neoplasm, Adenoma sebaceum, Malignant genitourinary tract tumor, Neoplasm of the liver, Col... |
ORPHA:587 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou... |
OMIM:242860 |
Premature Ovarian Failure 2B |
|
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea |
OMIM:300604 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Decreased serum leptin, Hypogonadism |
OMIM:614962 |
Attenuated Familial Adenomatous Polyposis |
|
Papilloma, Colorectal polyposis, Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Fibrom... |
ORPHA:220460 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Ata... |
OMIM:308700 |
Myasthenia Gravis |
|
Abnormality of the endocrine system, Thymoma |
OMIM:254200 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased CD4:CD8 ratio, Au... |
OMIM:618495 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Lipoatrophy, A... |
ORPHA:2457 |
Scleroderma, Familial Progressive |
|
Abnormality of chromosome stability, Chromosome breakage |
OMIM:181750 |
Lipodystrophy, Familial Partial, Type 1 |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the n... |
OMIM:608600 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
Cancer-Associated Retinopathy |
|
Thymoma, Cutaneous melanoma, Small cell lung carcinoma, Malignant genitourinary tract tumor, Uter... |
ORPHA:71505 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Ataxia, Tremor, Deficient excision of UV-induced pyrimidine dimers in DNA, ... |
OMIM:278760 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Increased circulating IgA level, Recurrent viral infectio... |
OMIM:618048 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Ring Chromosome 21 Syndrome |
|
Gait disturbance, Diabetes insipidus, Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
48,Xxyy Syndrome |
|
Decreased testicular size, Cryptorchidism, Ataxia, Hypoplasia of penis, Infertility, Hypergonadot... |
ORPHA:10 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance |
OMIM:615980 |
Fanconi Anemia, Complementation Group A |
|
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Small for gestational age, A... |
OMIM:227650 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating total... |
OMIM:620210 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Small for gestational age, Leukemia, Azoospermia,... |
OMIM:210900 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Renal cortical adenoma, Adrenocortical adenoma |
ORPHA:231632 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Autoimmune thrombocytopenia, Sepsis, Autoimmune hemolytic anemia... |
OMIM:616100 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:147630 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Anemia, Sepsis, Chronic oral c... |
OMIM:616740 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Neutrophilia, Inc... |
OMIM:617099 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Exostoses, Multiple, Type Ii |
|
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma |
OMIM:133700 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgE level, Chronic mucocutaneous candidias... |
OMIM:619752 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Histiocytosis, Increased circulating IgM level, B lymphocytopenia, Hepatospleno... |
ORPHA:2442 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance |
ORPHA:90301 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Abscess, Increased circulating IgE level, Chr... |
OMIM:615816 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Hyperinsulinemia, Reduced subcutaneous ... |
ORPHA:280356 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
OMIM:614841 |
Fragile X Syndrome |
|
Congenital macroorchidism, Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Essential Thrombocythemia |
|
Abnormal platelet morphology, Myelodysplasia, Splenomegaly, Acute leukemia |
ORPHA:3318 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid... |
OMIM:301000 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... |
ORPHA:454840 |
Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Small for gestational age, A... |
OMIM:600901 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
49,Xyyyy Syndrome |
|
Decreased testicular size, Eunuchoid habitus, External genital hypoplasia, Primary gonadal insuff... |
ORPHA:99330 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o... |
OMIM:615559 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Anemia, Abscess, Recurrent lower respiratory tract infections, D... |
OMIM:615758 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Cryptorchidism, External genital hypoplasia |
OMIM:613390 |
Thymoma |
|
Neoplasm of the thyroid gland, Neoplasia of the pleura, Neoplasm, Aplastic anemia, Pure red cell ... |
ORPHA:99867 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Myelodysplasia, Pancytopenia |
OMIM:614742 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Recurrent sinopulmonary infections, Decreased circulating... |
OMIM:618394 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Dysgenesis of the cerebellar vermis, Micropen... |
ORPHA:8 |
Gardner Syndrome |
|
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... |
ORPHA:79665 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
Familial Adenomatous Polyposis 3 |
|
Bladder neoplasm, Colon cancer, Meningioma, Prostate cancer, Breast carcinoma, Pancreatic adenoca... |
OMIM:616415 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Myeloid leukemia, Leukocytosis, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... |
OMIM:619705 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
|