Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Tumor Predisposition Syndrome 1 |
|
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... |
OMIM:614327 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Myofibromatosis, Infantile, 1 |
|
Myofibromatosis, Fibroma |
OMIM:228550 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Lung Cancer |
|
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
Pheochromocytoma/Paraganglioma Syndrome 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Spermatogenic Failure 20 |
|
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation |
OMIM:131440 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Spermatogenic Failure 65 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma, Neoplasm of the gastrointestinal tract |
OMIM:606864 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Spermatogenic Failure 84 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 56 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
Spermatogenic Failure 51 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... |
OMIM:619177 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia, Pulmonary fibrosis |
OMIM:620400 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
Schwannomatosis 2 |
|
Schwannoma, Spinal cord tumor |
OMIM:615670 |
Spermatogenic Failure 40 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 39 |
|
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 47 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... |
ORPHA:399808 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
Glioma Susceptibility 3 |
|
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... |
OMIM:613029 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility |
OMIM:618670 |
Nf1-Microdeletion syndrome |
|
Neurofibroma |
DECIPHER:15 |
Carcinoid Tumors, Intestinal |
|
Intestinal carcinoid |
OMIM:114900 |
Pheochromocytoma/Paraganglioma Syndrome 5 |
|
Paraganglioma |
OMIM:614165 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Small Cell Cancer Of The Lung |
|
Neoplasm of the lung |
OMIM:182280 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... |
OMIM:617959 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... |
ORPHA:399805 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia |
OMIM:252270 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Elevated circulating catecholamine level, Chemodectoma, Adrenal ph... |
OMIM:605373 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skeletal system,... |
ORPHA:1332 |
Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis |
OMIM:246470 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... |
ORPHA:98798 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
N Syndrome |
|
Leukemia, Neoplasm, Cryptorchidism |
OMIM:310465 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... |
OMIM:115310 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia |
OMIM:614082 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Cutaneous Neuroendocrine Carcinoma |
|
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... |
ORPHA:79140 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma, Stillbirth |
OMIM:257350 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Neurofibromatosis, Type I |
|
Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neurofibroma, Astrocytoma... |
OMIM:162200 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly ... |
OMIM:311895 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia, Pulmonary fibrosis |
OMIM:614743 |
Carney Complex, Type 1 |
|
Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy... |
OMIM:160980 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Lymphoma, Lymphoproliferative disorder, Pancytopenia, Splenomegaly, Lymphocytosis, Neut... |
OMIM:614470 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Primary Erythromelalgia |
|
Leukemia, Recurrent respiratory infections |
ORPHA:90026 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib... |
ORPHA:52901 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... |
OMIM:614840 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
Lymphedema, Primary, With Myelodysplasia |
|
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia |
OMIM:614038 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites |
ORPHA:295 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal pericardial effusion, Fetal ascites, Hydrops fetalis, Polyhydramnios, Fetal pleural effusion |
OMIM:619462 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysplasia, Refractory anemia |
OMIM:616871 |
Spermatogenic Failure 38 |
|
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... |
OMIM:618433 |
Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
Leydig Cell Hypoplasia |
|
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C... |
ORPHA:755 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia |
ORPHA:98827 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... |
OMIM:276300 |
Von Hippel-Lindau Syndrome |
|
Retinal capillary hemangioma, Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Re... |
OMIM:193300 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocyto... |
OMIM:619041 |
Dermatofibrosarcoma Protuberans |
|
Neoplasm of the skin, Fibrosarcoma |
ORPHA:31112 |
Indomethacin Embryofetopathy |
|
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... |
ORPHA:1909 |
Kaposi Sarcoma, Susceptibility To |
|
Hypermelanotic macule, Edema |
OMIM:148000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... |
ORPHA:158057 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... |
OMIM:620103 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Maffucci Syndrome |
|
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... |
ORPHA:163634 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
Acquired Ichthyosis |
|
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma |
ORPHA:454 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology |
ORPHA:98848 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Macroorchidism |
OMIM:300238 |
Bazex Syndrome |
|
Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm |
ORPHA:166113 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligozoospermia, Male infertility |
OMIM:258150 |
Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... |
OMIM:620356 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... |
OMIM:620044 |
Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
|
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Optic nerve glioma, Spinal neurofibroma, Neu... |
OMIM:613675 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Chemodectoma, Neoplasm, Glomus jugular tumor, Glomus tympanicum paraganglioma |
OMIM:601650 |
Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Splenomegaly, Pulmo... |
ORPHA:2414 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Hyperinsulinemic hypoglycemia, Multiple pancreatic beta-cell adenomas, Type II diabet... |
OMIM:147630 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... |
OMIM:615415 |
Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Nephropathy, Autonomic bladder dysfunction, Elevated circulating alkaline ... |
ORPHA:330001 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Chronic myelomonocytic leukemia, Acute myeloid leukemia |
OMIM:616604 |
Carney Triad |
|
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Le... |
ORPHA:139411 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
47,Xyy Syndrome |
|
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... |
ORPHA:8 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, B lymphocytopenia, Myelo... |
OMIM:614172 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Myelodysplasia, Abnormal erythrocyte morphology, Macr... |
ORPHA:86841 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cutaneous melanoma, Pheochromocytoma, Cryptorchidism, Nephroblastoma, Hemangi... |
ORPHA:2874 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Singl... |
ORPHA:3405 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
Ollier Disease |
|
Precocious puberty, Neoplasm, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral an... |
ORPHA:296 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect, ... |
ORPHA:101028 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Progressive Osseous Heteroplasia |
|
Sarcoma, Abnormality of the parathyroid gland |
ORPHA:2762 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Myelodysplasia |
OMIM:185050 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Anophthalmia, Ventricular septal defect, Neonatal death, Atrial ... |
OMIM:601186 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma |
OMIM:171420 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Hb Bart'S Hydrops Fetalis |
|
Oligohydramnios, Pallor, Polyhydramnios, Hydrops fetalis, Pericarditis |
ORPHA:163596 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Grfoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Elevated cir... |
ORPHA:97261 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... |
ORPHA:157798 |
Hydrops Fetalis |
|
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... |
ORPHA:1041 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, T... |
OMIM:616589 |
Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... |
ORPHA:3104 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Functioning Gonadotropic Adenoma |
|
Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ... |
ORPHA:91348 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Facial palsy |
OMIM:616435 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... |
ORPHA:145 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... |
ORPHA:2585 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... |
ORPHA:2302 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Aplastic anemia, Pancytopenia,... |
OMIM:614742 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
Pleural Mesothelioma |
|
Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal cardiovascular system... |
ORPHA:50251 |
Gombo Syndrome |
|
Abnormal heart morphology, Microcephaly, Microphthalmia |
OMIM:233270 |
17Q11 Microdeletion Syndrome |
|
Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious puberty, Plexif... |
ORPHA:97685 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Abnormal heart valve morphology, Ascites, Emphysema, Pleural effusion, Splenomegaly, ... |
ORPHA:36412 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias |
OMIM:605724 |
Hemochromatosis, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... |
OMIM:235200 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:146110 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Microc... |
OMIM:601355 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Spermatogenic Failure 8 |
|
Cryptozoospermia, Azoospermia, Oligozoospermia |
OMIM:613957 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... |
ORPHA:438274 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomeg... |
OMIM:614702 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death |
OMIM:276822 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Testicular neoplasm, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, N... |
ORPHA:83469 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Ciliary Dyskinesia, Primary, 51 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620438 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, P... |
ORPHA:401935 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Anophthalmia, Microcephaly, Microphthalmia, Pericardial e... |
OMIM:613885 |
Pseudo-Torch Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ... |
OMIM:617397 |
Pheochromocytoma |
|
Pheochromocytoma, Neoplasm, Hemangioma |
OMIM:171300 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Glycogen Storage Disease Ii |
|
Firm muscles, Urinary incontinence, Reduced muscle alpha-1,4-glucosidase activity, Increased circ... |
OMIM:232300 |
Polyembryoma |
|
Isosexual precocious puberty, Macroorchidism, Irregular menstruation |
ORPHA:180229 |
Infantile Myofibromatosis |
|
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... |
ORPHA:2591 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Restrictive cardiomyopathy, Hydrops fetalis, Pulmonic stenosis |
OMIM:619433 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Aplastic anemia, Lymphopenia, Myelodysplasia, Hemangioma, Acute myeloid leukemia, Recu... |
ORPHA:486 |
Large Congenital Melanocytic Nevus |
|
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma |
ORPHA:626 |
Pleuropulmonary Blastoma |
|
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma |
OMIM:601200 |
Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... |
ORPHA:805 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Cranial nerve compression, Adrenal pheochromocytoma, Paraganglioma... |
ORPHA:276621 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Hypothyroidism, Neurofibroma |
ORPHA:2430 |
Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Oligohydramnios, Congenital d... |
OMIM:609029 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... |
ORPHA:636 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Redundant neck skin, Cardiomyopathy, Nonimmune hydrops fetalis |
OMIM:619003 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... |
ORPHA:247806 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... |
OMIM:616897 |
Auriculocondylar Syndrome 4 |
|
Hearing impairment, Question mark ear, Narrow mouth, Glossoptosis, Cleft palate |
OMIM:620457 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Neoplasm of the larynx, Adrenocorticotropic h... |
ORPHA:100083 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Nephrotic syndrome,... |
OMIM:619644 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular septal defect, L... |
OMIM:615355 |
Amed Syndrome, Digenic |
|
Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia, Myelodysplasia |
OMIM:619151 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Chylothorax, Arteriovenous malformation, Abnormal bleeding, Lymphedema, Abnormal heart... |
ORPHA:137667 |
Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Cranial nerve compression, Arachnoid... |
ORPHA:29072 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... |
OMIM:217095 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Flexion contracture... |
OMIM:618815 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptib... |
ORPHA:464329 |
Spermatogenic Failure 28 |
|
Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, Decreased testicular... |
OMIM:618086 |
Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... |
ORPHA:99818 |
Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma |
OMIM:180200 |
Auriculocondylar Syndrome 2A |
|
Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn... |
OMIM:614669 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal lung lobation, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect... |
ORPHA:2516 |
Q Fever |
|
Hepatosplenomegaly, Hematuria, Hepatomegaly, Purpura, Endocarditis, Vasculitis, Abnormal vascular... |
ORPHA:781 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... |
OMIM:261740 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi... |
OMIM:610755 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
Malignant Atrophic Papulosis |
|
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion, Stroke |
OMIM:602248 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Decreased fertility in females, Female hypogonadism, Decreased fertility in male... |
ORPHA:91349 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s... |
ORPHA:980 |
Exostoses, Multiple, Type Ii |
|
Rib exostoses, Peripheral nerve compression, Scapular exostoses, Pelvic bone exostoses, Multiple ... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Rib exostoses, Peripheral nerve compression, Scapular exostoses, Pelvic bone exostoses, Multiple ... |
OMIM:133700 |
Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Microcephaly, Lym... |
ORPHA:858 |
Essential Thrombocythemia |
|
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... |
ORPHA:3318 |
Congenital Disorder Of Glycosylation, Type Ik |
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Cardiomyopathy, Nonimmune hydrops fetalis, Joint contracture, Flexion contracture, Abnormality of... |
OMIM:608540 |
Aicardi-Goutieres Syndrome 9 |
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Hepatosplenomegaly, Hepatic steatosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insuffi... |
OMIM:619487 |
Precocious Puberty, Male-Limited |
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Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Craniofaciofrontodigital Syndrome |
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Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... |
ORPHA:363705 |
Verheij Syndrome |
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Renal hypoplasia, Branchial cyst, Truncus arteriosus, Ventricular septal defect, Renal cyst, Micr... |
OMIM:615583 |
Cardiomyopathy, Dilated, 1R |
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Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
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Chronic myelogenous leukemia |
OMIM:600080 |
Congenital Disorder Of Glycosylation, Type Il |
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Ascites, Splenomegaly, Hepatomegaly, Microcephaly, Atrial septal defect, Pericardial effusion, Hy... |
OMIM:608776 |
Syndromic Recessive X-Linked Ichthyosis |
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Hypogonadism, Acute leukemia, Cryptorchidism, Testicular seminoma |
ORPHA:281090 |
Klippel-Trénaunay Syndrome |
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Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Peripheral arteriovenou... |
ORPHA:90308 |
Gardner Syndrome |
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Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Male hypogonadism, Macroorchidism |
OMIM:300055 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
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Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H... |
OMIM:601927 |
Lymphatic Malformation 12 |
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Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... |
OMIM:620014 |
Lymphatic Malformation 6 |
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Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P... |
OMIM:616843 |
Congenital Heart Defects, Multiple Types, 4 |
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Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... |
ORPHA:1677 |
Thymoma |
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Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... |
ORPHA:99867 |
Genitopalatocardiac Syndrome |
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Transposition of the great arteries, Right aortic arch, Double outlet right ventricle, Ventricula... |
OMIM:231060 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
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Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism |
ORPHA:3055 |
Truncus Arteriosus |
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Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
Congenital Heart Defects, Multiple Types, 9 |
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Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
Rhabdoid Tumor |
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Anemia, Neoplasm of the liver, Thrombocytopenia, Renal neoplasm, Sarcoma, Neoplasm of the central... |
ORPHA:69077 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Pulmonary lymphan... |
OMIM:235510 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Pleural effusion, Splenomegaly, Joint swelling, Lymphadenopathy, Hepatomegaly, Pericarditis |
ORPHA:85414 |
Aggressive Systemic Mastocytosis |
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Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
Chondrodysplasia, Blomstrand Type |
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Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis, P... |
OMIM:215045 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... |
OMIM:265380 |
Neurofibroma |
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Enlarged peripheral nerve, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neuro... |
ORPHA:252183 |
Emanuel Syndrome |
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Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Oligohydramnios, Congenital d... |
ORPHA:96170 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Granuloma, Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Spinal n... |
ORPHA:363700 |
Chilblain Lupus |
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Chronic myelomonocytic leukemia |
ORPHA:90280 |
Lujan-Fryns Syndrome |
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Macroorchidism |
ORPHA:776 |
Nanophthalmos |
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Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:35612 |
Sarcoidosis, Susceptibility To, 2 |
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Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary a... |
OMIM:612387 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Renal insuffi... |
OMIM:617478 |
Spinocerebellar Ataxia 32 |
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Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Pancreatic Cancer, Susceptibility To, 1 |
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Pancreatic adenocarcinoma |
OMIM:606856 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Dicarboxylic aciduria,... |
OMIM:201475 |
Multiple Endocrine Neoplasia Type 2 |
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Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
Azoospermia, Obstructive, With Nephrolithiasis |
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Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Tricuspid Atresia |
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Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
Multiple Endocrine Neoplasia, Type Iib |
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Elevated circulating calcitonin concentration, Pheochromocytoma, Ganglioneuroma, Medullary thyroi... |
OMIM:162300 |
Legius Syndrome |
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Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
Congenital Myopathy 1B, Autosomal Recessive |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
Deafness-Lymphedema-Leukemia Syndrome |
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Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... |
ORPHA:3226 |
Acute Peripheral Arterial Occlusion |
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Stroke, Limb muscle weakness, Pallor |
ORPHA:90064 |
Spinocerebellar Ataxia Type 32 |
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Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
Pancreatic Cancer, Susceptibility To, 2 |
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Neoplasm of the pancreas |
OMIM:613347 |
Follicular Lymphoma |
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Lymphedema, Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Medi... |
ORPHA:545 |
Congenital Enterovirus Infection |
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Fetal ascites, Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Abnormal bleeding, Choles... |
ORPHA:292 |
Fragile X Syndrome |
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Macroorchidism |
ORPHA:908 |
Acute Interstitial Pneumonia |
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Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Periphera... |
ORPHA:79126 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
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Hepatic bridging fibrosis, Portal inflammation, Ventricular septal defect, Elevated circulating a... |
OMIM:613759 |
Glycogen Storage Disease Iv |
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Skeletal muscle atrophy, Cardiomyopathy, Ascites, Decreased fetal movement, Polyhydramnios, Flexi... |
OMIM:232500 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Pleural effusion, Pneumothorax, Lymphadenopathy, Pericardial effusion, Bronchiectasis |
ORPHA:411703 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
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Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
Basal Cell Nevus Syndrome 2 |
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Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma |
OMIM:620343 |
Catel-Manzke Syndrome |
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Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Radial deviation of th... |
ORPHA:1388 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
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Pericardial effusion, Pectus excavatum, Micropenis |
OMIM:614684 |
Rhabdoid Tumor Predisposition Syndrome 1 |
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Choroid plexus carcinoma, Medulloblastoma |
OMIM:609322 |
Xp22.13P22.2 Duplication Syndrome |
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Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Pulmonary Capillary Hemangiomatosis |
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Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... |
ORPHA:199241 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
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Furrowed tongue |
OMIM:165150 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Secondary microcephaly, Ventricular septal defect, Neonatal death, Microphthalmia, Hepatomegaly, ... |
OMIM:613730 |
Familial Adenomatous Polyposis 1 |
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Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
Systemic Capillary Leak Syndrome |
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Hypotension, Oliguria, Pleural effusion, Renal insufficiency, Pulmonary edema, Arrhythmia, Pancre... |
ORPHA:188 |
Immunodeficiency 36 With Lymphoproliferation |
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Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... |
OMIM:616005 |
Microphthalmia, Isolated, With Cataract 1 |
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Microphthalmia |
OMIM:156850 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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