| 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 |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Joint contracture, Flexion contracture, Abnormality of... |
OMIM:608540 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Hepatic steatosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insuffi... |
OMIM:619487 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... |
ORPHA:363705 |
| Verheij Syndrome |
|
Renal hypoplasia, Branchial cyst, Truncus arteriosus, Ventricular septal defect, Renal cyst, Micr... |
OMIM:615583 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
| Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Splenomegaly, Hepatomegaly, Microcephaly, Atrial septal defect, Pericardial effusion, Hy... |
OMIM:608776 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Acute leukemia, Cryptorchidism, Testicular seminoma |
ORPHA:281090 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Peripheral arteriovenou... |
ORPHA:90308 |
| Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H... |
OMIM:601927 |
| Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... |
OMIM:620014 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P... |
OMIM:616843 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... |
ORPHA:1677 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... |
ORPHA:99867 |
| Genitopalatocardiac Syndrome |
|
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 |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism |
ORPHA:3055 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Thrombocytopenia, Renal neoplasm, Sarcoma, Neoplasm of the central... |
ORPHA:69077 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Pulmonary lymphan... |
OMIM:235510 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Splenomegaly, Joint swelling, Lymphadenopathy, Hepatomegaly, Pericarditis |
ORPHA:85414 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis, P... |
OMIM:215045 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... |
OMIM:265380 |
| Neurofibroma |
|
Enlarged peripheral nerve, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neuro... |
ORPHA:252183 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Oligohydramnios, Congenital d... |
ORPHA:96170 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Granuloma, Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Spinal n... |
ORPHA:363700 |
| Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:35612 |
| Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary a... |
OMIM:612387 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Renal insuffi... |
OMIM:617478 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Dicarboxylic aciduria,... |
OMIM:201475 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Ganglioneuroma, Medullary thyroi... |
OMIM:162300 |
| Legius Syndrome |
|
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... |
ORPHA:3226 |
| Acute Peripheral Arterial Occlusion |
|
Stroke, Limb muscle weakness, Pallor |
ORPHA:90064 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Medi... |
ORPHA:545 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Abnormal bleeding, Choles... |
ORPHA:292 |
| Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Periphera... |
ORPHA:79126 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Hepatic bridging fibrosis, Portal inflammation, Ventricular septal defect, Elevated circulating a... |
OMIM:613759 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Decreased fetal movement, Polyhydramnios, Flexi... |
OMIM:232500 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pneumothorax, Lymphadenopathy, Pericardial effusion, Bronchiectasis |
ORPHA:411703 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... |
OMIM:618845 |
| Basal Cell Nevus Syndrome 2 |
|
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma |
OMIM:620343 |
| Catel-Manzke Syndrome |
|
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 |
|
Pericardial effusion, Pectus excavatum, Micropenis |
OMIM:614684 |
| Rhabdoid Tumor Predisposition Syndrome 1 |
|
Choroid plexus carcinoma, Medulloblastoma |
OMIM:609322 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... |
ORPHA:199241 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Secondary microcephaly, Ventricular septal defect, Neonatal death, Microphthalmia, Hepatomegaly, ... |
OMIM:613730 |
| Familial Adenomatous Polyposis 1 |
|
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Oliguria, Pleural effusion, Renal insufficiency, Pulmonary edema, Arrhythmia, Pancre... |
ORPHA:188 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... |
OMIM:616005 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating hepatic transaminase concentra... |
ORPHA:26791 |
| Familial Adenomatous Polyposis 3 |
|
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... |
OMIM:616415 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Abnormal optic disc morphology, Micropenis, Ureter... |
OMIM:617516 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Polyhydramnios, Hydrops fetalis, Patent ductus arteriosus, Premature birth |
ORPHA:2123 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... |
OMIM:239850 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Cholestasi... |
OMIM:620233 |
| Subependymoma |
|
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... |
ORPHA:251639 |
| Ependymoma |
|
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... |
ORPHA:251636 |
| Yellow Nail Syndrome |
|
Biliary tract neoplasm, Recurrent respiratory infections, Neoplasm, Renal neoplasm, Sarcoma, Pleu... |
ORPHA:662 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Increased circulating lactate dehydrogenase concentration, Ascites, Dark urine, Pleura... |
ORPHA:93552 |
| Spinal Muscular Atrophy, Type I |
|
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricular septal defect, Prox... |
OMIM:253300 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... |
ORPHA:320391 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... |
OMIM:600001 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatic necrosis, Hep... |
OMIM:231530 |
| Alpha-Thalassemia |
|
Generalized edema, Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, P... |
ORPHA:846 |
| Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... |
ORPHA:276399 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Abnormal peric... |
ORPHA:67 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... |
ORPHA:454840 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor... |
OMIM:619824 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... |
OMIM:180295 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Heart murmur, Trun... |
ORPHA:3426 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... |
ORPHA:98849 |
| Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Splenomegaly, Hepatomegaly, Lymphadenopathy, Pericardial effusion |
OMIM:613011 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... |
OMIM:612885 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... |
ORPHA:91 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... |
ORPHA:2299 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
| Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... |
ORPHA:220460 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Ascites, Stage 5 chronic kidney disease, Pleural effusion, Re... |
OMIM:603278 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Poliosis, Short mandibular rami, ... |
OMIM:141300 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Multiple muscular ventricular septal defects, Polyhydramnios, Aortic aneury... |
OMIM:620070 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ... |
OMIM:618775 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Congenital diaphragmatic hernia, Ventricular septal defect, Micropenis... |
OMIM:618280 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transamin... |
ORPHA:26793 |
| Achondrogenesis, Type Ib |
|
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:600972 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... |
ORPHA:753 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis |
ORPHA:86843 |
| Opsoclonus-Myoclonus Syndrome |
|
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... |
ORPHA:1183 |
| Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Primary Intestinal Lymphangiectasia |
|
Generalized edema, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Pleural effusion, A... |
ORPHA:90362 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Optic atrophy, Elevated urine acetoacetic acid level, Skeletal muscle atrophy, Alpha-aminoadipic ... |
OMIM:620089 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral stenosis, Mi... |
OMIM:616564 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Neuroblastoma, Susceptibility To, 2 |
|
Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma |
OMIM:613013 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Hepatocellular necrosis, Cholestasis, Oligo... |
OMIM:231100 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... |
ORPHA:615 |
| Noonan Syndrome 1 |
|
Chylothorax, Juvenile myelomonocytic leukemia, Hypogonadism, Cryptorchidism, Amegakaryocytic thro... |
OMIM:163950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Microcephaly, Calf muscle... |
OMIM:613155 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Bilateral vestibular schwannoma, Meningioma, Palmar neurofibroma, Paraspinal neurofibroma, Lisch ... |
OMIM:162260 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, ... |
OMIM:212065 |
| Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cell adenoma, Sub... |
OMIM:131100 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Pleural ... |
ORPHA:453499 |
| Auriculocondylar Syndrome 1 |
|
Low-set ears, Mandibular condyle aplasia, Cupped ear, Cleft at the superior portion of the pinna,... |
OMIM:602483 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Congenital diaphragmatic hernia, Anophthalmia, Ventricular septal defect... |
OMIM:615524 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricula... |
OMIM:614876 |
| Eng-Strom Syndrome |
|
Pectus excavatum, Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of... |
ORPHA:1937 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility |
ORPHA:48 |
| Familial Melanoma |
|
Melanoma, Neoplasm of the stomach, Neoplasm of the breast, Neoplasm of the pancreas |
ORPHA:618 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat... |
ORPHA:90033 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Renal hypoplasia, Tetralogy of Fallot, Atrioventricular canal defect, Exocr... |
ORPHA:508498 |
| Neuraminidase Deficiency |
|
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Ca... |
OMIM:256550 |
| Pyoderma Gangrenosum |
|
Myelodysplasia, Myeloid leukemia |
ORPHA:48104 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Transient ischemic at... |
ORPHA:2038 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Hypoplasia of ... |
OMIM:619313 |
| Lynch Syndrome 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... |
OMIM:614350 |
| Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Patent ductus ... |
OMIM:615297 |
| Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... |
OMIM:153100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Nemaline Myopathy 9 |
|
Polyhydramnios, Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:615731 |
| Poems Syndrome |
|
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Papilledema, Pulmonary arterial hypertensi... |
ORPHA:2905 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... |
ORPHA:44890 |
| Fetal Gaucher Disease |
|
Arthrogryposis multiplex congenita, Decreased fetal movement, Neonatal death, Fetal akinesia sequ... |
ORPHA:85212 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Hydrops fetalis, Ascites, Premature birth |
OMIM:269920 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... |
ORPHA:300751 |
| Alkuraya-Kucinskas Syndrome |
|
Arthrogryposis multiplex congenita, Pleural effusion, Micropenis, Hydrocephalus, Camptodactyly, P... |
OMIM:617822 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Ischemic stroke, Pleural... |
ORPHA:679 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Pleural effusion, Diffuse leiomyomatosis, Ovarian fibroma, Increased se... |
ORPHA:314478 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:2204 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor, Torticollis |
ORPHA:71518 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ascites, Flexion contracture, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... |
ORPHA:99889 |
| Birt-Hogg-Dube Syndrome 1 |
|
Spontaneous pneumothorax, Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple l... |
OMIM:135150 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Microcephaly, Pulm... |
OMIM:300887 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Leukocytosis, Lymphocytosis... |
ORPHA:514 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia, Hypospadias, Patent ductus arter... |
ORPHA:567 |
| Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Increased circulati... |
ORPHA:97289 |
| Von Hippel-Lindau Disease |
|
Retinal capillary hemangioma, Elevated circulating catecholamine level, Polycythemia, Pancreatic ... |
ORPHA:892 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
| Lymphangioleiomyomatosis |
|
Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Ascites, Emphys... |
ORPHA:538 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Hepatosplenomegaly, Myocardial eosinophilic infiltration, Portal fibrosis, Pleural ef... |
ORPHA:3260 |
| Retinoblastoma |
|
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... |
ORPHA:790 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Microphthalmia |
OMIM:616570 |
| Cancer-Associated Retinopathy |
|
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Optic atrophy, Cutaneous melanoma, Pancreat... |
ORPHA:71505 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Sensorineural hearing impairment, Abnormal metacarpal morphology, Glossoptosis, Cl... |
ORPHA:166100 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Horseshoe kidney, Abnormality of the spleen... |
ORPHA:2538 |
| Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... |
ORPHA:733 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... |
OMIM:614837 |
| Orofaciodigital Syndrome Xv |
|
Low-set ears, Midline notch of upper alveolar ridge, Broad hallux, Duplication of phalanx of hall... |
OMIM:617127 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Lymphoma, Abnormal dense granule content, Abnormal platelet shape, Acut... |
OMIM:601399 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Decreased liver function, Pleural effusion, Microcephaly, Recurrent respiratory infections, Edema |
OMIM:618606 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyopathy, Anasarca, Thir... |
OMIM:619573 |
| Orofaciodigital Syndrome Iv |
|
Low-set ears, Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobul... |
OMIM:258860 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hypoplasia of the musculature, Pulmonary hypoplasia, Shoulder flexion contracture, Elbow flexion ... |
OMIM:620369 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci... |
OMIM:145001 |
| Waldenström Macroglobulinemia |
|
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... |
ORPHA:33226 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal defect, Aplasia/Hypoplasia ... |
ORPHA:290 |
| Carcinoid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... |
ORPHA:100093 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Microglossia, Cleft palate |
ORPHA:141152 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microphthalmia |
ORPHA:2432 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... |
ORPHA:3092 |
| Alg9-Cdg |
|
Hypoplasia of the musculature, Ventricular septal defect, Atrial septal defect, Torticollis, Hepa... |
ORPHA:79328 |
| Lig4 Syndrome |
|
Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Type II diabetes mellitus, Cryptorchidism, ... |
ORPHA:99812 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Increased circulating prolactin concentration, Goiter... |
ORPHA:562 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Ventricular septal defect, Truncus... |
ORPHA:2008 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Talipes equinovarus, Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy |
ORPHA:496689 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... |
OMIM:612158 |
| Spermatogenic Failure 14 |
|
Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M... |
OMIM:615842 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
| Meige Disease |
|
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... |
ORPHA:90186 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Pallor, Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... |
OMIM:312300 |
| Platelet Disorder, Undefined |
|
Hematological neoplasm, Thrombocytopenia, Neuroblastoma |
OMIM:173420 |
| Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
| Aicardi-Goutieres Syndrome 7 |
|
Pneumonia, Vasculitis, Nephrotic syndrome, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, ... |
OMIM:615846 |
| Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... |
ORPHA:57777 |
| Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis, Skin ulcer, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:834 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| 49,Xxxyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... |
ORPHA:261534 |
| Aspergillosis |
|
Pneumonia, Hepatitis, Pleural effusion, Stroke, Hypersensitivity pneumonitis, Intracranial hemorr... |
ORPHA:1163 |
| Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function, Ventricular septal defect |
ORPHA:306550 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr... |
OMIM:153400 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... |
ORPHA:447877 |
| Mulibrey Nanism |
|
Ascites, Cardiomegaly, Pericardial constriction, Hydrops fetalis, Myocardial fibrosis |
OMIM:253250 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Hematuria, Hepatomegal... |
ORPHA:77261 |
| Orofaciodigital Syndrome Xix |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro... |
OMIM:620107 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... |
ORPHA:90790 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... |
OMIM:212093 |
| Zygomycosis |
|
Abnormal cranial nerve morphology, Acute infectious pneumonia, Periorbital edema, Endocarditis, G... |
ORPHA:73263 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... |
ORPHA:1926 |
| Avian Influenza |
|
Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increase... |
ORPHA:454836 |
| Burning Mouth Syndrome |
|
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... |
ORPHA:353253 |
| Congenital Central Hypoventilation Syndrome |
|
Neoplasm of the central nervous system, Ganglioneuroma, Ganglioneuroblastoma, Neuroblastoma |
ORPHA:661 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Werner Syndrome |
|
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... |
ORPHA:902 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swelling, Abno... |
ORPHA:35687 |
| Mmep Syndrome |
|
Microphthalmia, Microcephaly, Ventricular septal defect |
ORPHA:3434 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... |
OMIM:620570 |
| Lig4 Syndrome |
|
Pancytopenia, Myelodysplasia, Type II diabetes mellitus, Cryptorchidism, Hypothyroidism, Thromboc... |
OMIM:606593 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Dicarboxylic aci... |
ORPHA:71212 |
| Tularemia |
|
Pneumonia, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Pleural effusion... |
ORPHA:3392 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Pallor, Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
| Desmoid Tumor |
|
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors |
ORPHA:873 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... |
OMIM:220210 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Hepatomegaly, Myeloproliferat... |
ORPHA:79456 |
| Brucellosis |
|
Pneumonia, Pulmonary granulomatosis, Arteritis, Bronchitis, Liver abscess, Hypersplenism, Abnorma... |
ORPHA:1304 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Microcephaly, Atrial septal defect, Microphthalmia, Polyhydramnios |
ORPHA:3469 |
| Drug-Induced Lupus Erythematosus |
|
Petechiae, Hematuria, Pericardial effusion, Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614880 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Neurofibromatosis, Familial Spinal |
|
Neurofibroma, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Lisch nodules, S... |
OMIM:162210 |
| Recombinant Chromosome 8 Syndrome |
|
Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ... |
OMIM:179613 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias |
OMIM:618874 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Pleural ... |
OMIM:617049 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Gorham-Stout Disease |
|
Pleural effusion, Torticollis, Lymphangioma, Elevated alkaline phosphatase of bone origin, Edema |
ORPHA:73 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Tooth malposition, Ulnar deviation of finger, Low-set, posteriorly rotated ears, Furrowed tongue,... |
ORPHA:1387 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Endocarditis, Pleural empyema, Pericarditis |
ORPHA:449280 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:610628 |
| Behçet Disease |
|
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... |
ORPHA:117 |
| Leptospirosis |
|
Acute kidney injury, Hypotension, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Pl... |
ORPHA:509 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Hennekam Syndrome |
|
Chylothorax, Arteriovenous malformation, Lymphedema, Ascites, Camptodactyly of finger, Horseshoe ... |
ORPHA:2136 |
| Middle Ear Neuroendocrine Tumor |
|
Facial palsy, Neuroendocrine neoplasm, Carcinoid tumor |
ORPHA:100084 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... |
OMIM:150800 |
| Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:1263 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Nonimmune hydrops fetalis |
ORPHA:477774 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue, Abnormality of retinal pigmentation |
ORPHA:2743 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Palpebral edema, Chylous ascites, Pleural ... |
OMIM:265300 |
| Auriculocondylar Syndrome |
|
Abnormality of the crus of the helix, Mandibular condyle aplasia, Difficulty in tongue movements,... |
ORPHA:137888 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia |
ORPHA:71493 |
| Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia, Truncus arteriosus |
OMIM:206700 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:614897 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Partial atrioventricular canal defect, Hepatic steatosi... |
OMIM:615996 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Ventricular septal d... |
OMIM:208085 |
| Alg8-Cdg |
|
Premature skin wrinkling, Ascites, Oligohydramnios, Cutis laxa, Camptodactyly, Macroglossia, Hydr... |
ORPHA:79325 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Epistaxis, Elevated circulating hepatic transaminase concentration, Increased ... |
ORPHA:167 |
| Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
| Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:932 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Renal cyst, Microcephaly, Atrial septal defect, Hydroce... |
OMIM:611134 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Fetal pericardial effusion, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Ventricular sept... |
OMIM:617021 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Secondary microcephaly, Ventricular septal defect, Dysplastic aortic valve, Hypop... |
ORPHA:508488 |
| 46,Xy Sex Reversal 10 |
|
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... |
OMIM:616425 |
| Tafro Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Anasarca, Ascites, Hepatosplenomegaly,... |
ORPHA:457077 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
| Lambert Syndrome |
|
Cholestasis, Branchial anomaly, Ventricular septal defect, Intrahepatic biliary atresia, Jaundice... |
ORPHA:1296 |
| Fryns Syndrome |
|
Hypospadias, Joint contracture of the hand, Chylothorax, Stillbirth, Polysplenia, Polyhydramnios,... |
OMIM:229850 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... |
OMIM:601493 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Ascites, Abnormal cardiomyocyte morphology, Myop... |
ORPHA:367 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Bone spicule pigmentation of the retina, Cystoid macular edema |
OMIM:611040 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
| Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Cryptorchidism, Myeloid leukemia |
ORPHA:404443 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... |
OMIM:613751 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Low-set ears, Hearing impairment, Clinodactyly, Recurrent otitis media, Open mouth, Single transv... |
OMIM:613604 |
| Ataxia-Telangiectasia |
|
Female hypogonadism, Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:208900 |
| Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Oligohydramnios, Polyhydramnios, Premature birth |
ORPHA:3033 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Abnorma... |
ORPHA:1900 |
| Sarcoidosis, Susceptibility To, 1 |
|
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Hepatomegaly, Hypercalciu... |
OMIM:181000 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth |
OMIM:618732 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hypotension, Reduce... |
ORPHA:542323 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentration... |
OMIM:614576 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Oligohydramnios, Increase... |
OMIM:618494 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Premature birth, Cardiomyopathy, Nonimmune hydrops fetalis |
OMIM:618839 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Abnormalit... |
ORPHA:69735 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Pancreatic c... |
ORPHA:51608 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Pleural effusion, ... |
OMIM:618935 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Vesicoureteral reflux, Abnormal aortic morphology, Congenital diaphragmatic ... |
ORPHA:1166 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia, Cryptorchidism, Supernumerary nipple |
OMIM:619951 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder |
ORPHA:100924 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Neonatal death, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... |
ORPHA:2919 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Recurrent upper respiratory tract infections, Anasarca, Ascites, Pleural effusion, ... |
OMIM:618183 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism |
OMIM:613224 |
| Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Cardiomegaly, Perimembranous ventricular septal def... |
OMIM:620135 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Abnormal heart valve morphology, Abnormal lung lobation, Horseshoe kidne... |
ORPHA:99776 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Right ventricular failure, Anasarca, Lymphedema, Pleural effusion, Constrict... |
ORPHA:90363 |
| Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Ulnar deviation of finger, Microglossia, Long philtrum, Elbow flexion contr... |
OMIM:277720 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... |
OMIM:249670 |
| Familial Mediterranean Fever |
|
Stage 5 chronic kidney disease, Pleural effusion, Splenomegaly, Peritonitis, Hepatomegaly, Nephro... |
OMIM:249100 |
| Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93298 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Retinal hemorrhage, Hematuria, Hepatomegaly, Jaundice, Tachycardia, Purpura, D... |
ORPHA:99827 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Oligohydramnios, Ventricular septal defect, Cardi... |
OMIM:617022 |
| Orofaciodigital Syndrome Iii |
|
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Microdontia, Postaxial hand polydactyly, B... |
OMIM:258850 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... |
OMIM:192445 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Low-set ears, Downturned corners of mouth, Single transverse palmar crease, 2-3 toe syndactyly, T... |
OMIM:613443 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Short distal phalanx of finger, Short toe, Camptodactyly of finger, Submucou... |
ORPHA:3201 |
| Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis |
OMIM:616030 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... |
OMIM:605376 |
| Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microglossia, Short tibia, Short thumb, Sandal gap, Radial club hand, Narrow mo... |
ORPHA:1972 |
| Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93299 |
| Lymphatic Malformation 13 |
|
Fetal pericardial effusion, Lymphedema, Ascites, Patent foramen ovale, Nonimmune hydrops fetalis,... |
OMIM:620244 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
| Congenital Fibrinogen Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ... |
ORPHA:335 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Narrow mouth, Single t... |
OMIM:227270 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Branchial fistula, Camptodactyly of finger, Truncus arteriosus, Ventricular... |
ORPHA:261330 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma |
OMIM:610832 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... |
ORPHA:79501 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphan... |
OMIM:613254 |
| Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis, Bilateral conductive hearing impairment, Question mark ear |
OMIM:615706 |
| Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
| Kikuchi-Fujimoto Disease |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Increased circulating lactat... |
ORPHA:50918 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf... |
OMIM:618805 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney disease, Ventricular septal... |
OMIM:618719 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... |
ORPHA:1354 |
| Lelis Syndrome |
|
Carious teeth, Furrowed tongue, Vitiligo, Perioral hyperpigmentation, Hypodontia, Palmoplantar hy... |
ORPHA:140936 |
| American Trypanosomiasis |
|
Periorbital edema, Cardiomyopathy, Pallor, Myocarditis, Edema |
ORPHA:3386 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect |
OMIM:617992 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Secondary microcephaly, Patent foramen ovale, Ventricular septal defect,... |
OMIM:618652 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Ascites, Abnormal p... |
ORPHA:974 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... |
ORPHA:3304 |
| Cryptococcosis |
|
Pneumonia, Nodular pattern on pulmonary HRCT, Limb muscle weakness, Pleural effusion, Abnormal cr... |
ORPHA:1546 |
| Coccidioidomycosis |
|
Pneumonia, Vasculitis, Vasospasm, Exudative pleural effusion, Abnormality of the spleen, Abnormal... |
ORPHA:228123 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:600901 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Facial edema, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerul... |
ORPHA:567546 |
| Milroy Disease |
|
Neoplasm of the skin, Hydrocele testis, Angiosarcoma |
ORPHA:79452 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Neonatal death, Nonim... |
OMIM:620167 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Oligohydramnios, Microphthalmia, Hepato... |
OMIM:619053 |
| Rheumatic Fever |
|
Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... |
ORPHA:3099 |
| Long-Olsen-Distelmaier Syndrome |
|
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricula... |
OMIM:620609 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen... |
OMIM:226990 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Mitral valve prolapse, Small thenar emi... |
OMIM:211960 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Micromelia, Camptodactyly of finger, Furrowed tongue, Brachydactyly |
ORPHA:2928 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... |
ORPHA:99330 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... |
OMIM:619657 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Ventricular septal defect, Aganglionic megacolon, Atrial... |
OMIM:613870 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... |
OMIM:613404 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Short thumb |
OMIM:616540 |
| Meacham Syndrome |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... |
OMIM:608978 |
| Sweet Syndrome |
|
Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemi... |
ORPHA:3243 |
| Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Feingold Syndrome Type 2 |
|
Microcephaly, Ventricular septal defect |
ORPHA:391646 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Microcephaly, Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Trisomy 20P |
|
Macroorchidism, Hypospadias, Cryptorchidism |
ORPHA:261318 |
| Congenital Gerbode Defect |
|
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... |
ORPHA:99095 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... |
OMIM:618316 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Aortic valve stenosis, Chylothorax, Lymphedema, Hepatosplenomegaly, Splenomegaly, Mitral regurgit... |
OMIM:613563 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve... |
ORPHA:477817 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Muscular dystrophy, Optic nerve hypoplasia, Occipital encephalocele, Cardiomyopath... |
ORPHA:370959 |
| Ovarian Fibroma |
|
Ascites, Peritonitis, Pleural effusion, Mesenteric cyst |
ORPHA:314473 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
| Hellp Syndrome |
|
Generalized edema, Acute kidney injury, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:244242 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Tetralogy ... |
OMIM:136760 |
| Bloom Syndrome |
|
Recurrent upper respiratory tract infections, Lymphoma, Type II diabetes mellitus, Hepatic steato... |
OMIM:210900 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Nocardiosis |
|
Pneumonia, Lymphadenitis, Liver abscess, Abnormal heart valve morphology, Emphysema, Pleural effu... |
ORPHA:31204 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Portal hypertension, Leukocytosis, Splenomegaly, Portal vein thromb... |
ORPHA:729 |
| Congenital Factor Xiii Deficiency |
|
Hepatic failure, Myeloid leukemia |
ORPHA:331 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227650 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect |
ORPHA:251076 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Abnormal heart morphology, Microcephaly, Hypoplasia of the musculature, Skeletal muscle atrophy |
ORPHA:85323 |
| Trisomy 1Q |
|
Camptodactyly of finger, Increased nuchal translucency, Congenital diaphragmatic hernia, Ventricu... |
ORPHA:261344 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Goiter, Pituitary hypothyroidism, Macroorchidism, ... |
ORPHA:90674 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Hypotension, Shock, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmon... |
ORPHA:36238 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Low-set ears, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Clinodactyly of the 5th ... |
ORPHA:2759 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Bruising susceptibility, Prominent veins on trunk, Umbilical hernia, Mitral... |
ORPHA:536532 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstitial nephri... |
ORPHA:340 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Ventricular septal defect, Coarctation of aorta, Hepatomegaly, Recurrent respirator... |
OMIM:620210 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Microc... |
OMIM:612946 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... |
ORPHA:261243 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Skeletal muscle atrophy, Micronodular ... |
OMIM:256810 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
| Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei |
OMIM:260570 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Horseshoe kidney, Ventricular septal defect, Renal cyst, Intrahepatic bi... |
OMIM:614815 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Elevated pulmonary artery pressure, Edema |
OMIM:178400 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent respiratory infections, Tetralogy of Fallot,... |
ORPHA:2970 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Recurrent pneumonia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-c... |
ORPHA:647 |
| Trisomy 13 |
|
Optic atrophy, Abnormal lung lobation, Abnormality of the ureter, Anophthalmia, Aplasia/Hypoplasi... |
ORPHA:3378 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Hydronephrosis, Polyh... |
OMIM:607598 |
| Hypoglossia With Situs Inversus |
|
Low-set ears, Microglossia, Narrow mouth, Hypodontia, High palate |
OMIM:612776 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai... |
ORPHA:73224 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal... |
OMIM:614954 |
| Fusariosis |
|
Pneumonia, Abnormality of the spleen, Abnormality of the liver, Pleural effusion, Myositis, Perit... |
ORPHA:228119 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Bruising susceptibility, Mitral valve prola... |
ORPHA:230839 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Hypospadias, Ventricular septal defect, Atrial septal defect, Pectus excavatum, Pulmonary sequest... |
OMIM:618330 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... |
OMIM:616276 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... |
OMIM:252100 |
| Pentalogy Of Cantrell |
|
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Congenital... |
ORPHA:1335 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Aortic root aneurysm, Sinus tachycardia, Lower li... |
ORPHA:171881 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Pancytopeni... |
OMIM:260400 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
| Bloom Syndrome |
|
Pneumonia, Neoplasm of the skin, Bronchitis, Lymphoma, Malignant genitourinary tract tumor, Neopl... |
ORPHA:125 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Aborted sudden cardiac death, Dilated cardiomyopathy, Elevated circulat... |
OMIM:614921 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... |
OMIM:602782 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
| Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth, Polyhydra... |
OMIM:263630 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Oligohydr... |
OMIM:606003 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microcephaly, Atrial sept... |
ORPHA:2526 |
| Carney Complex |
|
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... |
ORPHA:1359 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Talipes equinovarus, Areflexia of upper limbs, Tongue atrophy |
OMIM:616155 |
| Cronkhite-Canada Syndrome |
|
Furrowed tongue, Generalized hyperpigmentation, Stomach cancer, Intestinal polyposis, Tapered fin... |
ORPHA:2930 |
| Kaposi Sarcoma |
|
Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Generalize... |
ORPHA:33276 |
| Feingold Syndrome 2 |
|
Secondary microcephaly, Ventricular septal defect |
OMIM:614326 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Rhabdomyolysis, Myopathy, Hydrops fetalis, Abnormality of the amniotic fluid |
OMIM:609015 |
| Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Cupped ear, Conductive hearing impairment, Dental crowding, Delayed eruption of pri... |
OMIM:616367 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... |
OMIM:620454 |
| Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... |
OMIM:231680 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephalocele... |
OMIM:253800 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Roifman Syndrome |
|
Recurrent pneumonia, Splenomegaly, Hip contracture, Ventricular septal defect, Noncompaction card... |
OMIM:616651 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior... |
ORPHA:244 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, Hepatocellular necrosis |
OMIM:256000 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom... |
OMIM:615630 |
| Orofaciodigital Syndrome V |
|
Low-set ears, Bifid uvula, Postaxial foot polydactyly, Hearing impairment, Sandal gap, Hamartoma ... |
OMIM:174300 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Shoulder girdle muscle weakness, Tongue atrophy, Scapular winging, Sensorineural hearing impairment |
OMIM:158900 |
| Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:609054 |
| Ring Chromosome 22 Syndrome |
|
Microcephaly, Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
| Digeorge Syndrome |
|
Interrupted aortic arch, Unilateral renal agenesis, Recurrent pneumonia, Cholelithiasis, Right ao... |
OMIM:188400 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Microcephaly, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect, Polyhydramnios, Pe... |
OMIM:618624 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Urinary incontinence, Tubulointerstitial nephritis, Ventricular fibrillation, Pro... |
ORPHA:358 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Microglossia, Low-set, posterior... |
ORPHA:1307 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Micromelia, Femoral bowing, Sensorineural hearing impairment, Dumbbell-shaped long bo... |
ORPHA:440354 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Tongue atrophy |
OMIM:613435 |
| Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Hypogonadism, Cryptorchidism, Melano... |
ORPHA:221008 |
| Myhre Syndrome |
|
Aortic valve stenosis, Generalized muscle hypertrophy, Ventricular septal defect, Hypertension, M... |
OMIM:139210 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... |
ORPHA:79644 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Increased nuchal translucency, Renal cortical... |
ORPHA:1692 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
| Central Core Disease |
|
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Mitral ... |
ORPHA:597 |
| Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Clinodactyly of the 5th finger, Microglossia, Microdontia |
OMIM:606744 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Occipital encephalocele, Tricuspid regurgitation, Oligohydramnios, Increased nu... |
OMIM:619879 |
| Trisomy 8Q |
|
Camptodactyly of finger, Low-set, posteriorly rotated ears, Protruding ear, Deep palmar crease, A... |
ORPHA:1752 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular... |
OMIM:618278 |
| Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis |
ORPHA:90646 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Ventricular septal defect |
OMIM:616816 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Reduced dihydropyrimidine dehydrogenase level, Optic atrophy, Elevated urinary dihydrothymine lev... |
OMIM:274270 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Camptodactyly of finger, Microphthalmia, Polyhydramnios, Hypoplasia of penis, Patent... |
ORPHA:2547 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Neoplasm of the pancreas |
OMIM:608189 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227645 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... |
OMIM:607941 |
| Gaucher Disease, Perinatal Lethal |
|
Desquamation of skin soon after birth, Ascites, Petechiae, Decreased fetal movement, Nonimmune hy... |
OMIM:608013 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal angiodysplasia,... |
ORPHA:903 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... |
ORPHA:3097 |
| Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Abnormal hear... |
OMIM:230500 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Tricuspi... |
OMIM:619167 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Arrhythmia, Subvalvular aortic stenosis, Microphthalmia, Membranous su... |
ORPHA:3191 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Elevated circulating hepatic transaminase concentration, Vesicoureteral reflux, Vent... |
OMIM:301056 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia |
OMIM:251270 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Ventricular septal defect, Pulmonary edema, Microphthalmia, Hepat... |
ORPHA:137675 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... |
ORPHA:210136 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal pleura morphology, Arrhythmia, Tubulointerstitial nephri... |
ORPHA:797 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Lymphoma... |
ORPHA:221 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... |
ORPHA:210122 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Decreased fetal movement |
OMIM:613630 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Elbow dislocation, Adducted thumb, Advanced ossification of carpal bones, Glossoptosis, Cleft pal... |
OMIM:620269 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Fibroma |
OMIM:619750 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
| Deafness-Craniofacial Syndrome |
|
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Sensorineural h... |
ORPHA:3241 |
| Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F... |
OMIM:115470 |
| Gm1 Gangliosidosis |
|
Cardiomyopathy, Cherry red spot of the macula, Abnormal heart morphology, Camptodactyly of finger... |
ORPHA:354 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... |
ORPHA:324604 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Few cafe-au-lait spots, Wide mouth, Protruding tongue, Single transverse palmar ... |
OMIM:618106 |
| Hartnup Disease |
|
Gingivitis, Glossitis, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2116 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... |
ORPHA:325124 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Proteus Syndrome |
|
Lymphangioma, Venous malformation, Splenomegaly |
OMIM:176920 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Splenomegaly, Ventricular septal defect, Hepatomegaly, Pulmonary arterial hypert... |
OMIM:608149 |
| Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth |
OMIM:200610 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Abnormal mesentery morphology, Ventricular septal defect, Polyhydramnios, Hypop... |
ORPHA:2256 |
| Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Cryptorchidism, Melanoma, ... |
ORPHA:221016 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... |
OMIM:208530 |
| Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Abnormal morphology of ulna,... |
ORPHA:2167 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, Hype... |
ORPHA:231226 |
| Cofs Syndrome |
|
Optic atrophy, Camptodactyly of finger, Microcephaly, Microphthalmia, Arthrogryposis multiplex co... |
ORPHA:1466 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture of the... |
OMIM:618914 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Leukemia, Embryonal rhabdomyosarcoma, Cryptorchidism, Nephroblastoma |
OMIM:257300 |
| Joubert Syndrome 14 |
|
Optic atrophy, Encephalocele, Ventricular septal defect, Renal cyst, Hydrocephalus, Meningocele, ... |
OMIM:614424 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Generalized edema, Acute kidney injury, Oliguria, Hypertensive crisis, Anuria, Respira... |
ORPHA:544482 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Refsum Disease |
|
Skeletal muscle atrophy, Cardiomyopathy, Renal insufficiency, Splenomegaly, Microphthalmia, Heart... |
ORPHA:773 |
| Hypoglossia-Hypodactylia |
|
Microglossia, Adactyly, Aglossia, Narrow mouth, Split hand |
OMIM:103300 |
| Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Squamous cell carcinoma, A... |
ORPHA:2909 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... |
ORPHA:3282 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... |
OMIM:126320 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Abnormal fetal nasal bone visualization, Comp... |
OMIM:190685 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Osteosarcoma, Histiocytoma |
OMIM:112250 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... |
OMIM:612474 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Proteinuria, Hydrocephalus, Camptodactyly, Pericardial effusion,... |
ORPHA:1272 |
| Noonan Syndrome 2 |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa... |
OMIM:605275 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Increased placental thickness, Abnormal heart morphology, Single umbilical artery, Flexion contra... |
ORPHA:1865 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Muscular dystrophy, Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
| Congenital Sialidosis Type 2 |
|
Optic atrophy, Cherry red spot of the macula, Abnormal heart morphology, Ascites, Hepatosplenomeg... |
ORPHA:93400 |
| 8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux, Abnormal cranial nerve morphology, Atrial septal defect, Ventricular septa... |
ORPHA:228399 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Elevated circulating hepatic transaminase concentration, Splenomegaly, Ventricular... |
OMIM:615673 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok... |
ORPHA:1457 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Hearing impairment, Aplasia/Hypoplasia of th... |
ORPHA:570 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
| Dyskeratosis Congenita, X-Linked |
|
Optic atrophy, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism, Oropharyngeal... |
OMIM:305000 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Widely spaced teeth, Protruding tongue, Hypo... |
ORPHA:98795 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Decreased fetal mo... |
OMIM:614886 |
| Fryns Syndrome |
|
Abnormal aortic arch morphology, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicouretera... |
ORPHA:2059 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Type 2 muscle fiber predominance, Congenital contracture, Chylothorax, Thymus hyperplasia, Type 1... |
OMIM:619036 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent respirator... |
OMIM:612541 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Neoplasm of the nervous system, Ganglioneuroblastoma |
ORPHA:2151 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Camptodactyly of finger, Ventricular septal defect, Microcephaly, Limb h... |
OMIM:616920 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... |
OMIM:270100 |
| Femoral-Facial Syndrome |
|
Camptodactyly of finger, Encephalocele, Truncus arteriosus, Ventricular septal defect, Bilobed ri... |
OMIM:134780 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue, Hyperpigmentation of the skin |
OMIM:301845 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Interrupted aortic arch, Aplasia/Hypoplasia of the thymus, Tetralogy of F... |
ORPHA:1727 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ... |
OMIM:253310 |
| Pericardial And Diaphragmatic Defect |
|
Abnormal heart morphology, Tetralogy of Fallot, Partial diaphragmatic absence of pericardium, Pal... |
ORPHA:2847 |
| Tempi Syndrome |
|
Ascites, Transudative pleural effusion, Abnormality of the pulmonary vasculature, Telangiectasia,... |
ORPHA:284227 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Broad first metatarsal... |
ORPHA:2751 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma |
ORPHA:97286 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Azoospermia, Cryptorchidism, Testicular adrenal rest t... |
ORPHA:361 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Bradycardi... |
OMIM:616277 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
| Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Macroglossia, Hypopigmentation of hair |
ORPHA:2221 |
| Monosomy 22 |
|
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic ... |
ORPHA:96123 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent pneumonia, Lymphadenitis, Atelectasis, Ascites, Pleural effusion, Splenomegaly, Lymphad... |
OMIM:306400 |
| Li-Campeau Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Micropenis, Patent ductus ... |
OMIM:619189 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Abnormal eosinophil morphology, Lymphoma, Microcytic anemia, Lymphopenia, Hemolyt... |
ORPHA:906 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Cr... |
OMIM:617052 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ... |
OMIM:613470 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels... |
ORPHA:568051 |
| Lynch Syndrome |
|
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... |
ORPHA:144 |
| Duane-Radial Ray Syndrome |
|
Renal hypoplasia, Optic disc hypoplasia, Horseshoe kidney, Pectoralis hypoplasia, Crossed fused r... |
OMIM:607323 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Arteriovenous malformation, Lymphedema |
ORPHA:584 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis |
ORPHA:2902 |
| Serkal Syndrome |
|
Abnormal penis morphology, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal d... |
ORPHA:139466 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:93267 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Neurofibroma |
OMIM:606764 |
| Pneumocystosis |
|
Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Pleural effu... |
ORPHA:723 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Optic atrophy, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, ... |
OMIM:249270 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral edema, Facial erythema, Pallor |
ORPHA:439218 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, ... |
OMIM:603387 |
| Developmental And Epileptic Encephalopathy 80 |
|
Low-set ears, Short distal phalanx of finger, Hearing impairment, Long philtrum, Wide mouth, Tent... |
OMIM:618580 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit... |
OMIM:614262 |
| Marden-Walker Syndrome |
|
Joint contracture of the hand, Renal hypoplasia, Congenital contracture, Decreased muscle mass, M... |
OMIM:248700 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Recurrent pneumonia, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricul... |
ORPHA:500159 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Lymphedema, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Ventricular sept... |
OMIM:235255 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nephrotic syndrome, Dilate... |
OMIM:618348 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... |
ORPHA:100085 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, Hype... |
ORPHA:231214 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Ventricular septal defect, Aganglionic megacolon, Microcephaly... |
ORPHA:452 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:212140 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Hepatic cysts, Mitral valve prolapse, Mitral regurg... |
OMIM:173900 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Camptodactyly of finger, Acute hepatic failure, Horseshoe kidney, U... |
ORPHA:2092 |
| Timothy Syndrome |
|
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... |
OMIM:601005 |
| Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Abnormal heart morphology, Vesicoureteral reflux, Ventricular septal defect, Micro... |
ORPHA:494344 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor, Nonimmune hydrops fetalis |
OMIM:266200 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Microcephaly, ... |
OMIM:618142 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal cranial nerve morphology, Ventricular septal defect, Spina bifida, Congenital muscular t... |
ORPHA:2345 |
| Lissencephaly 8 |
|
Optic atrophy, Occipital encephalocele, Skeletal muscle atrophy, Microcephaly, Microphthalmia |
OMIM:617255 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness... |
OMIM:254940 |
| Acrocallosal Syndrome |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Finger syndactyly, ... |
OMIM:200990 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Meckel Syndrome |
|
Accessory spleen, Optic atrophy, Multicystic kidney dysplasia, Oligohydramnios, Situs inversus to... |
ORPHA:564 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy, Hydrops fetalis, Cardiomyopathy |
ORPHA:88618 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis |
OMIM:616738 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Abnormal lung lobation, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intes... |
ORPHA:1052 |
| Fetal Trimethadione Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Microcephaly, Transposition of the great arteries... |
ORPHA:1913 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy,... |
OMIM:305620 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Abnormal thymus morpholog... |
ORPHA:2463 |
| Camurati-Engelmann Disease, Type 2 |
|
Skeletal muscle atrophy, Mitral regurgitation, Mitral valve prolapse, Hip contracture, Knee flexi... |
OMIM:606631 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... |
ORPHA:64739 |
| Down Syndrome |
|
Polycythemia, Type II diabetes mellitus, Acute megakaryocytic leukemia, Delayed puberty, Hyperthy... |
ORPHA:870 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:913 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis, Exencephaly |
OMIM:614464 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thrombocytopenia, Cerebellar medull... |
OMIM:112200 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... |
ORPHA:99125 |
| Spondylo-Ocular Syndrome |
|
Facial hypotonia, Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect |
ORPHA:85194 |
| Tarp Syndrome |
|
Low-set ears, Prominent antihelix, Clinodactyly, Meckel diverticulum, Single transverse palmar cr... |
OMIM:311900 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Bicuspid aortic valve, Mic... |
OMIM:619318 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... |
ORPHA:530 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Pulmonary lymphangiectasia, Palpebral... |
OMIM:137940 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Elbow flexion contracture, Furrowed tongue, Open mouth, Narrow mouth, Limited elb... |
OMIM:615065 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Recurrent respiratory in... |
ORPHA:2020 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Hearing impair... |
OMIM:601596 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Coronary artery ath... |
ORPHA:435638 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Abnormal cranial nerve morphology, Venous insuffi... |
ORPHA:624 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Optic atrophy, Microcephaly, Microphthalmia |
OMIM:616171 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Situs inversus totalis, Microcephaly, Microphthalmia, Flexion contracture, Optic nerve hypoplasia |
OMIM:614833 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Cardiomyo... |
OMIM:258450 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Primary microcephal... |
OMIM:618804 |
| Orofaciodigital Syndrome Vi |
|
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum... |
OMIM:277170 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Atrial septal defect, Left superior vena cava draining to coronary... |
OMIM:611961 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Short thumb, Overlapping toe, Arachnodactyly, Talipes equinovarus, Radioulna... |
ORPHA:436003 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Open mouth, Sensorineural hea... |
ORPHA:193 |
| Pseudotrisomy 13 Syndrome |
|
Renal hypoplasia, Microphthalmia, Complete atrioventricular canal defect, Encephalocele, Ventricu... |
OMIM:264480 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Abnormally large globe, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly... |
ORPHA:1655 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm, ... |
OMIM:616166 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ... |
ORPHA:488618 |
| Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Chronic lymphatic leukemia, B-cell lymphoma, Abnormal lu... |
ORPHA:91139 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocy... |
OMIM:227646 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... |
ORPHA:228410 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Microphthalmia, Hepatomegaly, Optic disc pallor, Vascular calcification, Hy... |
ORPHA:90324 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... |
ORPHA:254534 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Anasarca, Pleural effusion, Renal insufficiency,... |
OMIM:254900 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Low-set ears, Broad thumb, Prominent fingertip pads, Prominent crus of helix, Open mouth, Protrud... |
OMIM:617804 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Fanconi Anemia, Complementation Group I |
|
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Patent foramen ovale, Ventricular sept... |
OMIM:609053 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Bicuspid aortic valve, Microcephaly, Microphthalmia, Micropenis, Patent du... |
OMIM:243310 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Increased nuchal translucency, Patent foramen ovale, Ventricular septal defect, Atri... |
OMIM:615668 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Xerostomia, Hyperpigmentation of the skin, Glossitis, Hamartomatous p... |
OMIM:175500 |
| Plummer-Vinson Syndrome |
|
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy |
ORPHA:54028 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Mitral regurgitation, Mitral valve prolapse, ... |
OMIM:616648 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Microcephaly, Hypoplasia of penis, Ventricular septal defect |
ORPHA:2772 |
| Acute Liver Failure |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... |
ORPHA:90062 |
| Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Patent foramen ovale, Stillbirth, Camptodactyly, Hydrops fetalis |
OMIM:228520 |
| Congenital Syphilis |
|
Large placenta, Palmoplantar scaling skin, Petechiae, Myocarditis, Hydrops fetalis, Purpura, Prem... |
ORPHA:499009 |
| Grange Syndrome |
|
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... |
ORPHA:79094 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Hydrocephalus, Microphthalmia, Hypoplasia of penis, Holo... |
ORPHA:77298 |
| Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Oculofaciocardiodental Syndrome |
|
Peripheral pulmonary artery stenosis, Flexion contracture of the 4th toe, Mitral valve prolapse, ... |
ORPHA:2712 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
| Noonan Syndrome With Multiple Lentigines |
|
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona... |
ORPHA:500 |
| Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy, Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... |
ORPHA:2255 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Microcephaly, Microphthalmia, Pectus ... |
OMIM:612530 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Bilateral microphthalmos, Umbilical hernia, Abnormal heart morp... |
ORPHA:369891 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Hypoplasia of the musculature, Camptodactyly of finger, Tricuspid regurgitation, Umbilical hernia... |
ORPHA:1101 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Bruising susceptibility, Vesicoureteral reflux, Quadricuspid aortic va... |
OMIM:606408 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Urinary retention, Vascular tortuosity, Lower limb muscle weakness, A... |
ORPHA:90307 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Ventricular septal defect, Hydronep... |
OMIM:613001 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Encephalocele, Anencephaly, Microcephaly, Left ventricular hypertrophy... |
OMIM:619148 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Persistent left superior vena cava... |
OMIM:314390 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Muscular dystrophy, Occipital encephalocele, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Microcephaly, Ventricular septal defect |
OMIM:618506 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Redundant neck skin, Ventricular s... |
OMIM:618164 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Low-set ears, Exaggerated median tongue furrow, Sensorineural hearing impairment, Everted lower l... |
OMIM:608670 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... |
OMIM:620511 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Mitral Valve Prolapse 1 |
|
Pectus excavatum, Mitral regurgitation, Mitral valve prolapse |
OMIM:157700 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Small hand, Narrow mouth, Talipes equinovarus, High palate, Short foot, Pierre-Robi... |
OMIM:611209 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral regurgitation, Mitral valve prolapse, Ventri... |
OMIM:612561 |
| Agnathia-Otocephaly Complex |
|
Low-set ears, Microglossia, Conductive hearing impairment, Aglossia, Narrow mouth, Synotia, Cleft... |
OMIM:202650 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Situs inversus totalis, Encephalocele, Ventricular septal... |
ORPHA:1908 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... |
ORPHA:392 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Cholelithiasis, Male urethral meatus stenosis, Contracture of the proximal i... |
ORPHA:464738 |
| Farber Disease |
|
Skeletal muscle atrophy, Cherry red spot of the macula, Ascites, Joint swelling, CNS foam cells, ... |
ORPHA:333 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Optic atrophy, Tetralogy of Fallot, Atrioventricul... |
ORPHA:7 |
| Tetraamelia Syndrome 2 |
|
Low-set ears, Ankyloglossia, Bilateral cleft lip, Glossoptosis, Cleft palate |
OMIM:618021 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Dry skin, Oligohydramnios, Mitral sten... |
ORPHA:163956 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... |
ORPHA:989 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... |
ORPHA:371428 |
| Orofaciodigital Syndrome Type 3 |
|
Low-set ears, Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Hamartoma of... |
ORPHA:2752 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... |
ORPHA:284169 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Hearing impair... |
ORPHA:364577 |
| Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Right aortic ... |
OMIM:620642 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Pallor |
ORPHA:99931 |
| Jacobsen Syndrome |
|
Optic atrophy, Annular pancreas, Recurrent respiratory infections, Ventricular septal defect, Mic... |
OMIM:147791 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Urinary incontinence, Distal amyotrophy, Foot dorsiflexor weakness, Mitral valve prolapse |
ORPHA:98 |
| Phace Association |
|
Optic atrophy, Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurys... |
OMIM:606519 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis |
OMIM:618265 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Recurrent pneumonia, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Microcep... |
OMIM:617751 |
| Eisenmenger Syndrome |
|
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... |
ORPHA:97214 |
| Otospondylomegaepiphyseal Dysplasia |
|
Bifid uvula, Dumbbell-shaped femur, Sandal gap, Flared femoral metaphysis, Fibular bowing, Tibial... |
ORPHA:1427 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Widely spaced teeth, Protruding tongue, Hypo... |
ORPHA:411511 |
| Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Abnormal heart valve morphology, Diastasis recti, Macroglossia, Flexion contractu... |
OMIM:253220 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect |
ORPHA:2476 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Camptodactyly of finger, Elbow flexion contracture, Abnormal heart morp... |
OMIM:610758 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Finger joint contracture, Abnormality of peripheral nerve conduction, Microphthalmia, Acute rhabd... |
ORPHA:48431 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Cherry red spot of the macula, Hydrops fetalis, Macroglossia, Abnormal placenta m... |
ORPHA:79255 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Renal hypoplasia, Atelectasis, Ascites, Splenomegaly, Patent foramen ovale, ... |
OMIM:269860 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Dilatat... |
ORPHA:730 |
| Cowden Syndrome |
|
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo... |
ORPHA:201 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... |
OMIM:182250 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Abnormal tongue morphology, Acroosteolysis of distal phalanges (feet), Abnormali... |
ORPHA:2457 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de... |
OMIM:616652 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact... |
OMIM:268310 |
| Carpenter Syndrome 1 |
|
Optic atrophy, Joint contracture of the hand, Hydroureter, Polysplenia, Umbilical hernia, Tetralo... |
OMIM:201000 |
| Craniotelencephalic Dysplasia |
|
Optic atrophy, Microcephaly, Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dy... |
ORPHA:1528 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Lower limb muscle weakness, Pleural effusion, Pulmonary arteriovenous m... |
OMIM:606721 |
| Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
| Holoprosencephaly |
|
Optic atrophy, Spinal dysraphism, Anophthalmia, Tetralogy of Fallot, Abnormality of the spleen, A... |
ORPHA:2162 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, Ventricular septal ... |
OMIM:618870 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Congestive heart failure, Short chordae tendineae of the mitral valve, Tric... |
OMIM:314400 |
| Multiple Pterygium Syndrome, X-Linked |
|
Amyoplasia, Hypoplastic heart, Polyhydramnios, Flexion contracture, Edema, Pulmonary hypoplasia |
OMIM:312150 |
| Galactosialidosis |
|
Nonimmune hydrops fetalis, Cherry red spot of the macula |
OMIM:256540 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Wolcott-Rallison Syndrome |
|
Ascites, Double outlet right ventricle, Atrial septal defect, Dehydration |
ORPHA:1667 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Recurrent pneumonia, Elbow flexion contracture, Knee flexion contr... |
OMIM:214150 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
| Microcephaly-Capillary Malformation Syndrome |
|
Optic atrophy, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Progressiv... |
OMIM:614261 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Ragged-red muscle fibers, Scapular winging, Generalized limb muscle atrophy |
OMIM:600462 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Spontaneous pneumothorax, Vertebral artery aneurysm, Bruising susceptibi... |
OMIM:619656 |
| Trisomy X |
|
Pectus excavatum, Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... |
ORPHA:2326 |
| Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
| Contractural Arachnodactyly, Congenital |
|
Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Mitral regurgitation, Kn... |
OMIM:121050 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Microcephaly, Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Chromosome 15Q14 Deletion Syndrome |
|
Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:2209 |
| Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Microphthalmia, Hypoplasia of penis, Patent ductu... |
ORPHA:2328 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphopeni... |
OMIM:618986 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Lymphedema, Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasi... |
ORPHA:891 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of aorta, Hydrocephalus, ... |
ORPHA:268249 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Contractu... |
OMIM:617201 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Hepatic steatosis, Mitral valve prolapse, Reduced cystathionine beta-synthase act... |
OMIM:236200 |
| Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hydronephrosis, Microcephaly, Atrial septal defe... |
OMIM:618950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
| Filippi Syndrome |
|
Optic atrophy, Microcephaly, Ventricular septal defect |
OMIM:272440 |
| Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
| Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
| Non-Functioning Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:94080 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... |
ORPHA:99050 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the musculature, Hydranencephaly, Microcephaly, Hydrocephalus, Joint contracture, P... |
OMIM:225790 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Broad thumb, Intestinal malrotation, Bilateral cleft palate, Bifid tongue, Clinodactyly of the 5t... |
ORPHA:2001 |
| Kapur-Toriello Syndrome |
|
Joint contracture of the hand, Camptodactyly of finger, Ventricular septal defect, Atrial septal ... |
OMIM:244300 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis, Abnormally large globe, Ventricular septal defect |
OMIM:618504 |
| Interatrial Communication |
|
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
| Adams-Oliver Syndrome 2 |
|
Optic atrophy, Oligohydramnios, Microcephaly, Limb hypertonia, Hydrocephalus, Microphthalmia |
OMIM:614219 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Ascites, Mitral regurgitation, Mitral valve prolapse, Camptodactyly of t... |
ORPHA:2848 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology, Ventricular septal defect, Microcephaly, Recurrent aspirat... |
ORPHA:79243 |
| Achondrogenesis, Type Ia |
|
Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Stillbirth, Polyhyd... |
OMIM:200600 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse, Camptodactyly |
OMIM:615539 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Mitral valve prolapse |
ORPHA:2183 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C... |
OMIM:301068 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Lead Poisoning |
|
Decreased male libido, Abnormality of the menstrual cycle, Infertility, Decreased female libido, ... |
ORPHA:330015 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Abnormality of the ureter, Large placenta, Microphthalmia, Polycystic ki... |
OMIM:249000 |
| Keutel Syndrome |
|
Optic atrophy, Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmona... |
ORPHA:85202 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Optic atrophy, Recurrent upper respiratory tract infections, Contractures of the large joints, Ve... |
ORPHA:3078 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Media... |
OMIM:177850 |
| Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Ventricular septal defect, Hydronephrosis, Microcephaly, Pulmonary arterial ... |
OMIM:616449 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Lymphedema, Renal insufficiency, Mitral valve prolapse, Pulmonary lymphangiectasia |
OMIM:247410 |
| Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... |
OMIM:619051 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Pseudoxanthoma Elasticum |
|
Nephrocalcinosis, Restrictive cardiomyopathy, Gastrointestinal hemorrhage, Abnormal cerebral vasc... |
ORPHA:758 |
| Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Arterial tortuosity, Emphysema,... |
OMIM:614816 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... |
OMIM:615067 |
| Mgat2-Cdg |
|
Abnormal heart morphology, Hydrops fetalis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79329 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Median cleft upper lip, Pos... |
OMIM:241800 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Optic nerv... |
OMIM:620025 |
| Tay-Sachs Disease |
|
Pallor, Cherry red spot of the macula |
OMIM:272800 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Ventricular septal defec... |
OMIM:610733 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Unilateral renal agenesis, Microcephaly, Ventricular septal defect |
ORPHA:3306 |
| Carey-Fineman-Ziter Syndrome |
|
Ulnar deviation of finger, Long philtrum, Aplasia/Hypoplasia of the tongue, Talipes equinovarus, ... |
ORPHA:1358 |
| Pierpont Syndrome |
|
Micropenis, Microcephaly, Microphthalmia |
OMIM:602342 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Mitral regurgitation, ... |
OMIM:614866 |
| Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Cholestasis, Abnormality of the ureter, Reduced number of i... |
ORPHA:52 |
| Mitral Valve Prolapse 3 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:610840 |
| Mitral Valve Prolapse 2 |
|
Mitral regurgitation, Mitral valve prolapse |
OMIM:607829 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Hearing impairment, Flared ... |
ORPHA:93346 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Hypoplastic heart, Polyhydramnios, Flexion contracture, Edema, Pulmonary hypoplasia |
OMIM:253290 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect |
ORPHA:3449 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Microcephaly, Microphthalmia, Camptodactyly, Pectus excavatum |
OMIM:619694 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Neuroendocrine neoplasm, Cholecystitis, Intermittent jaundice, Neoplasm o... |
ORPHA:100086 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Secondary microcephaly, Ventricular septal defect |
ORPHA:3369 |
| Craniofacial Dyssynostosis With Short Stature |
|
Horseshoe kidney, Ventricular septal defect, Hydrocephalus, Hypospadias, Patent ductus arteriosus |
OMIM:218350 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:608572 |
| Primary Myelofibrosis |
|
Purpura, Petechiae, Pallor, Ecchymosis |
ORPHA:824 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microcephaly, Atrial septal def... |
OMIM:603467 |
| Chromosome 17Q12 Duplication Syndrome |
|
Facial hypotonia, Atrial septal defect, Microphthalmia |
OMIM:614526 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Congenital diaphragm... |
ORPHA:2470 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect |
ORPHA:2143 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Portal hypertension, Joint swelling, Splenomegaly, Card... |
ORPHA:465508 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pectus excavatum, P... |
OMIM:615279 |
| Orofaciodigital Syndrome Type 6 |
|
Midline notch of upper alveolar ridge, Conductive hearing impairment, Lobulated tongue, Finger cl... |
ORPHA:2754 |
| Lymphedema-Distichiasis Syndrome |
|
Abnormality of the pulmonary vasculature, Diabetes mellitus, Fibrosarcoma |
ORPHA:33001 |
| Fetal Alcohol Syndrome |
|
Microcephaly, Atrial septal defect, Congenital diaphragmatic hernia, Microphthalmia |
ORPHA:1915 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardi... |
OMIM:300280 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Microce... |
ORPHA:329224 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Oligohydramnios, Cardiomegaly, Left ventricular hypertrophy, Cerebral edema, Hepa... |
OMIM:617713 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Elevated circulating hepatic transaminase c... |
OMIM:620005 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia |
OMIM:617450 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism |
OMIM:619950 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Oculoauriculofrontonasal Syndrome |
|
Microcephaly, Encephalocele, Ventricular septal defect |
ORPHA:398156 |
| Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Tricuspid regurgitation, Vesicoureteral reflux, Mitral regurgitation, Ventricul... |
OMIM:615879 |
| Bresek Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Neonatal death, Aganglionic megacolon, Microcephaly, Hyd... |
ORPHA:85284 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... |
OMIM:619418 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic adenocarcinoma, Abnor... |
ORPHA:99880 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Pleural effusion, Splenomegaly, Lymphadenopathy, Nephrotic synd... |
ORPHA:29073 |
| Foix-Alajouanine Syndrome |
|
Cervical myelopathy, Functional abnormality of the bladder, Urinary retention, Lower limb muscle ... |
ORPHA:79093 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Lymphedema |
ORPHA:3137 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... |
OMIM:309801 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Arthrogryposis multiplex congenita, Hepatic steatosis, Mitral regurgitation... |
ORPHA:254346 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis |
OMIM:269250 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Horseshoe kidney, ... |
OMIM:612562 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatic fibrosis, Peripheral pulmonary artery stenosis, Renal hypoplasia, A... |
ORPHA:84064 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Microcephaly, Cam... |
OMIM:619980 |
| Fanconi Anemia |
|
Arteriovenous malformation, Atrial septal defect, Microphthalmia, Hypospadias, Patent ductus arte... |
ORPHA:84 |
| Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm, Mitral valve prolapse |
OMIM:604308 |
| Radio-Renal Syndrome |
|
Chylothorax, Pleural effusion, Multicystic kidney dysplasia |
ORPHA:3015 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Polyhydramnios, Hypo... |
ORPHA:1923 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Irregular hyperpigmentation, Edema, Congestive heart failure |
ORPHA:2505 |
| Coffin-Siris Syndrome 7 |
|
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Polyhydr... |
OMIM:618027 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Atrial septal defect, Polyhydramnios, Pectus excavatum, Pulmonic stenosis |
OMIM:615102 |
| Dubowitz Syndrome |
|
Aplastic anemia, Lymphoma, Cryptorchidism, Neuroblastoma, Acute lymphoblastic leukemia |
OMIM:223370 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Uterine neoplasm, Aspiration pneumonia, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm... |
ORPHA:1018 |
| Hereditary Acrokeratotic Poikiloderma |
|
Gingival bleeding, Abnormality of the dentition, Irregular hyperpigmentation, Xerostomia, Finger ... |
ORPHA:2907 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeleta... |
ORPHA:899 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse, R... |
ORPHA:309155 |
| Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Finger syndact... |
ORPHA:1507 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatic fibrosis, Hepatic failure, Galactosuria, Tetralogy of Fallot, Chole... |
OMIM:222470 |
| 3Q29 Microdeletion Syndrome |
|
Horseshoe kidney, Microcephaly, Pulmonary arterial hypertension, Subvalvular aortic stenosis, Mic... |
ORPHA:65286 |
| Zellweger Syndrome |
|
Optic atrophy, Hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Hydronep... |
ORPHA:912 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Ventricular septal defect, Microcephaly,... |
OMIM:619123 |
| Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema |
ORPHA:75508 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Interstitial pneumoniti... |
ORPHA:77293 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Budd-Chiari syndrome, Hepatic necrosis, Interstitial pneumonitis, Cirrhosis, Pulmonary fibrosis |
OMIM:127550 |
| Frontometaphyseal Dysplasia |
|
Hypoplasia of the musculature, Joint contracture of the hand, Interphalangeal joint contracture o... |
ORPHA:1826 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short distal phalanx of finger, Diastema, Furrowed tongue, Protruding ear, Talipes equinovarus, C... |
OMIM:300534 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Aortic root aneurysm, Bruising susceptibility, Abnormal heart valve morphol... |
ORPHA:230851 |
| Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
| Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Coarctation of aorta, Prolonged prothrombin time, Pulmoni... |
OMIM:616559 |
| Trisomy 18 |
|
Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Ventricular septal def... |
ORPHA:3380 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Aortic regurgitation, Bruising susceptibility, Mitral regurgitation, Mitral valve prolapse, Pectu... |
OMIM:225320 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Angelman Syndrome |
|
Hypopigmentation of the skin, Fair hair, Widely spaced teeth, Protruding tongue, Blue irides, Mac... |
OMIM:105830 |
| Ellis Van Creveld Syndrome |
|
Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs, Cryptorchidism |
ORPHA:289 |
| Giant Cell Arteritis |
|
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... |
ORPHA:397 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal heart morphology, Microphthalmia, Ventricular septal defect |
ORPHA:404440 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Multiple bladder diverticula, Proteinuria, Microcephaly, Atrial septal defect, Microphthalmia, He... |
ORPHA:2728 |
| Orofaciodigital Syndrome I |
|
Low-set ears, Carious teeth, Hearing impairment, Clinodactyly, Ankyloglossia, High palate, Syndac... |
OMIM:311200 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Dubowitz Syndrome |
|
Lymphoma, Neoplasm, Cryptorchidism, Hypoparathyroidism, Thrombocytopenia, Anemia, Abnormality of ... |
ORPHA:235 |
| Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Renal hamartoma, Parathyroid carcinoma, Pancreati... |
ORPHA:143 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Cholestasis, ... |
OMIM:619534 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Muscular dystrophy, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystro... |
ORPHA:2461 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... |
OMIM:609008 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse |
ORPHA:2233 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect,... |
OMIM:614294 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, St... |
OMIM:616730 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Microcephaly, Microphthalmia |
OMIM:600118 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Renal corticomedullary cysts, Vascular dilatation... |
OMIM:219730 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Ventricular septal defect, Renal cyst, Heart murmur, Abnormal vena cava morphology |
ORPHA:166035 |
| Codas Syndrome |
|
Hydroureter, Extrahepatic biliary duct atresia, Ventricular septal defect |
ORPHA:1458 |
| Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Oligohydramnios, Stage 5 chronic kidney disease, Proteinuria, Microcephaly, C... |
OMIM:617729 |
| Senior-Loken Syndrome 8 |
|
Pallor, Vascular dilatation |
OMIM:616307 |
| Fetal Akinesia Deformation Sequence 1 |
|
Generalized amyotrophy, Congenital contracture, Decreased muscle mass, Camptodactyly of finger, S... |
OMIM:208150 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... |
OMIM:613426 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Thickened Achilles tendon, Mitral valve prolapse, Ventricular septal... |
ORPHA:3071 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Facial palsy |
OMIM:615085 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Chronic Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Xerostomia, Urinary bladder inflammation... |
ORPHA:99921 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ureteral stenosis, Horseshoe kidney, Ventricular septal defect, Hydronephr... |
OMIM:272950 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hydrops fetalis |
OMIM:614091 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, Camp... |
OMIM:301039 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Fraser Syndrome 3 |
|
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... |
OMIM:617667 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Hyperpigmented streaks, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycar... |
OMIM:300952 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Intrinsic hand muscle atrophy, Tongue fasciculations, Tongue atrophy, Scapular winging |
OMIM:620285 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of tongue, Intestinal malrota... |
OMIM:613091 |
| Phaver Syndrome |
|
Camptodactyly of finger, Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Pulmo... |
ORPHA:2876 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Hearing impairment, Delayed eru... |
ORPHA:1452 |
| Atelis Syndrome 1 |
|
Bronchiectasis, Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Pigmentary retinopathy, Microphthalmia |
OMIM:193220 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Microcep... |
OMIM:616777 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal lung lobation, Umbilical hernia, Encephalocele, Microcephaly, Hydrocephalus, Abnormal ca... |
ORPHA:2166 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Fetal distress, Elbow flexion contracture, Hip contracture, Knee flexion contracture, Bilateral f... |
OMIM:300868 |
| Osteogenesis Imperfecta, Type Ii |
|
Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Congenital diaphragmatic hernia, Knee flexion contracture, Decreased fetal movement, Multiple joi... |
OMIM:265000 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous... |
ORPHA:97278 |
| Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Microcephaly, Perimembranous ventricula... |
OMIM:600987 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
| 1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Vesicoureteral reflux, Hydronephrosis, Microcephaly, Hydrocephalus, Abno... |
ORPHA:250989 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Atrial septal defect |
OMIM:616546 |
| Pachyonychia Congenita 3 |
|
Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Palmar hyperkeratosis, ... |
OMIM:615726 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Joint contracture of the hand, Micropenis, Ventricular septal defect |
OMIM:113000 |
| Marinesco-Sjögren Syndrome |
|
Optic atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeleta... |
ORPHA:559 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Optic atrophy, Ventricular septal defect, Micr... |
OMIM:220500 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Dextrocardia, Ventricular septal defect |
OMIM:618067 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Microcephaly, Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
| Woods Syndrome |
|
Optic atrophy, Ventricular septal defect |
OMIM:615236 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... |
OMIM:616037 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormal pu... |
ORPHA:2072 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... |
ORPHA:100080 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Optic atrophy, Microcephaly, Ventricular septal defect |
OMIM:234050 |
| Otopalatodigital Syndrome Type 2 |
|
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... |
ORPHA:90652 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Hearing impairment, Persistence of primary teeth, Protruding tongue, Single transver... |
OMIM:610253 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Retinal arterial tortuosity, Patent foramen ovale, Cardiomegaly, Limb hypertonia, Cerebral edema,... |
OMIM:620371 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate, Hyperextensibility of the finger joints |
OMIM:618356 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
| Martsolf Syndrome 1 |
|
Cardiomyopathy, Congestive heart failure, Microcephaly, Microphthalmia, Micropenis, Pectus excava... |
OMIM:212720 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal musculature, Muscul... |
ORPHA:2926 |
| Monosomy 18P |
|
Lymphedema, Microcephaly, Microphthalmia, Pectus excavatum, Holoprosencephaly, Hypertension |
ORPHA:1598 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Protruding tongue, Sensorineural hearing impairment, Alveolar ridge overgrowth, Drum... |
OMIM:612938 |
| Homozygous Familial Hypercholesterolemia |
|
Tendon xanthomatosis, Hepatic steatosis, Mitral regurgitation, Premature arteriosclerosis, Optic ... |
ORPHA:391665 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... |
OMIM:619343 |
| Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Rudimentary fibula, Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rot... |
ORPHA:958 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Hearing impairment, Open bite, Foot polydactyly, High palate, Tarsal synostosi... |
ORPHA:2750 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Low-set ears, Broad thumb, Cleft lip, Hearing impairment, Clinodactyly, Downturned corners of mou... |
OMIM:616894 |
| Tarp Syndrome |
|
Prominent antihelix, Hearing impairment, Finger syndactyly, Clinodactyly, Low-set, posteriorly ro... |
ORPHA:2886 |
| Fumarase Deficiency |
|
Ascites, Pallor, Bilateral fetal pyelectasis, Perimembranous ventricular septal defect, Polyhydra... |
OMIM:606812 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Stillbirth, Abnormal lung lobation, Complete atrioventricular canal defect, Ven... |
OMIM:236680 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Optic atrophy, Absence of the pulmonary valve, Congestive heart failure, U... |
OMIM:601808 |
| Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
| Poliomyelitis |
|
Hypovolemic shock, Hypoplasia of the musculature, Hypotension, Skeletal muscle atrophy, Upper lim... |
ORPHA:2912 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Horseshoe kidney, Ventricular septal defect, Microcephaly, Patent duct... |
OMIM:613680 |
| Greenberg Dysplasia |
|
Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Neonatal death, Stillbi... |
OMIM:215140 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Glossoptosis, Hypopigmented skin patches, Sensorineural hearing impairment |
ORPHA:47 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Stroke, Hydrops fetalis, ... |
ORPHA:79282 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Umbilical hernia, Ventricular ... |
OMIM:619769 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctation of ... |
OMIM:617602 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Microglossia, Camptodactyly of finger, Mesomelic/rhizom... |
ORPHA:2839 |
| Cardiogenic Shock |
|
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... |
ORPHA:97292 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Palpebral edema, Abnormal vena cava morphology, Mediastinal lymphadenopat... |
ORPHA:99868 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Long philtrum, Diastema, Macrodontia, Wide mouth, Open mouth, Protruding tongue, Gi... |
OMIM:212066 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Dental crowding, Narrow palate, Exaggerated median tongue furrow |
ORPHA:313892 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Nephrolithiasis, Ventri... |
ORPHA:369929 |
| Boudin-Mortier Syndrome |
|
Pectus excavatum, Elevated alkaline phosphatase of bone origin, Aortic root aneurysm, Mitral valv... |
OMIM:619543 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Neoplasm |
ORPHA:70591 |
| Chops Syndrome |
|
Optic atrophy, Aspiration pneumonia, Horseshoe kidney, Vesicoureteral reflux, Splenomegaly, Paten... |
OMIM:616368 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Erythema, Premature birth, Cardiomegaly, Periorbital edema, Ascending tubular aorta aneurysm, Hyd... |
OMIM:620376 |
| Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Ependymoma, Streak ovary, Teratoma... |
ORPHA:798 |
| Loeys-Dietz Syndrome 1 |
|
Descending thoracic aorta aneurysm, Hypoplasia of the musculature, Pulmonary artery aneurysm, Aor... |
OMIM:609192 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Kleefstra Syndrome |
|
Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Ventricular septal defect, Hydro... |
ORPHA:261494 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... |
OMIM:300963 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Recurrent sinusitis, Mitral valv... |
OMIM:130000 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus excavatum, Microcephaly, Ventricular septal defect |
OMIM:609654 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Cryptorchidism |
OMIM:609942 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Aortic... |
OMIM:130720 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Limb hypertonia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Lambotte Syndrome |
|
Microcephaly, Semilobar holoprosencephaly, Ventricular septal defect |
OMIM:245552 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Ventricular septal defect, Prolonged neonatal jaundice, Hydronephrosis, Optic disc... |
OMIM:214100 |
| Frank-Ter Haar Syndrome |
|
Umbilical hernia, Mitral valve prolapse, Camptodactyly of finger |
ORPHA:137834 |
| Beck-Fahrner Syndrome |
|
Facial hypotonia, Microcephaly, Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Mogs-Cdg |
|
Generalized edema, Fair hair, Hepatosplenomegaly, Pulmonary edema, Hepatomegaly, Cardiomegaly, Le... |
ORPHA:79330 |
| Refsum Disease, Classic |
|
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure |
OMIM:266500 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Bilateral lung agenesis, Oligohydramnios, Congenital di... |
OMIM:611812 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
ORPHA:100075 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Abnormal heart morphology, Pectus excavatum, Microphthalmia |
OMIM:618571 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Supraventricular arr... |
ORPHA:91347 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Renal cyst, Microphthalmia, Meningocele, Anencephaly, Bile duct proliferation |
OMIM:603194 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Encephalocele, Ventricular se... |
OMIM:100300 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Petechiae, Bruising susceptibility, Mitral valve prolapse |
OMIM:225310 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:2184 |
| Gracile Bone Dysplasia |
|
Ascites, Aniridia, Hydrocephalus, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hydrops fetalis, Pallor, Dehydration |
OMIM:557000 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Micropenis, Hydronephrosis, Microphthalmia |
OMIM:619185 |
| Phace Syndrome |
|
Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo... |
ORPHA:42775 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Short lingual f... |
OMIM:180700 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Ventricular septal defect, Camptodactyly of toe, Microcephaly, Microphthalmia |
ORPHA:251038 |
| Pelger-Huet Anomaly |
|
Umbilical hernia, Ventricular septal defect, Foot dorsiflexor weakness, Lower limb hypertonia |
OMIM:169400 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... |
ORPHA:99094 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Nephrolith... |
OMIM:615474 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Ventricular septal defect |
OMIM:209770 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Secondary microc... |
OMIM:615663 |
| Cranioectodermal Dysplasia 2 |
|
Patent foramen ovale, Left ventricular hypertrophy, Cutis laxa, Atrial septal defect, Polyhydramn... |
OMIM:613610 |
| Sepsis In Premature Infants |
|
Pallor, Petechiae, Caesarian section, Purpura, Edema, Premature birth |
ORPHA:90051 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor, Dehydration, Edema |
ORPHA:20 |
| Cousin Syndrome |
|
Low-set ears, Joint contracture of the hand, Hearing impairment, Fibular aplasia, Dislocation of ... |
OMIM:260660 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Panc... |
OMIM:167800 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Pectus excavatum, Microspherophakia, Aortic root aneurysm, Mitral valve prolapse |
OMIM:129600 |
| Distal Deletion 15Q |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... |
ORPHA:1596 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue fasciculations, Tongue atrophy |
OMIM:614678 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,... |
ORPHA:2306 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomega... |
OMIM:231005 |
| Thauvin-Robinet-Faivre Syndrome |
|
Bifid ureter, Mitral valve prolapse, Ventricular septal defect, Renal cyst, Varicose veins, Macro... |
OMIM:617107 |
| Trichohepatoneurodevelopmental Syndrome |
|
Macroglossia, Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Spleno... |
OMIM:618268 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Peripheral pulmonary artery stenosis, Joint contracture of the hand, Tetralogy of Fallot, Dry ski... |
OMIM:280000 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Corneal neovascularization, Hypoplasia of the fovea, Macular ... |
ORPHA:2334 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Bilateral single transver... |
OMIM:620450 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Telangiec... |
OMIM:612582 |
| 9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Downturned corners of mouth, Polydactyly |
ORPHA:531151 |
| Autosomal Dominant Spastic Paraplegia Type 10 |
|
Leg muscle stiffness, Lower limb muscle weakness, Distal lower limb amyotrophy, Dupuytren contrac... |
ORPHA:100991 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Oligohydramnios, Ventricular septal defect, Cardiomegaly, Hepatomegaly, Macrogl... |
ORPHA:96191 |
| Cooper-Jabs Syndrome |
|
Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly of fi... |
ORPHA:1488 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Erythema, Dry skin, Hip contracture, Ventricular septal defect, Hypoplastic aortic arch, Hypoplas... |
OMIM:619503 |
| Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Abnormal lung lobation, Ventricular septal defect, Coarctation of aorta, H... |
OMIM:300514 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Microcephaly, Atrial septal defect, Scapular winging, Pectus excavatum... |
OMIM:617061 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... |
OMIM:612863 |
| Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Microcephaly, Penoscrotal hypospadias, Micropenis, Skeletal muscle hyp... |
OMIM:617164 |
| Aase-Smith Syndrome I |
|
Flexion contracture, Hydrocephalus, Ventricular septal defect |
OMIM:147800 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Optic atrophy, Ventricular septal defect, Hydronephrosis, Microcephaly, Atrial septal defect, Pat... |
ORPHA:457193 |
| Ileal Neuroendocrine Tumor |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu... |
ORPHA:100078 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Renal cyst, Microphthalmia, Anencephaly, Bile duct proliferation |
OMIM:611561 |
| Stickler Syndrome Type 1 |
|
Mitral valve prolapse |
ORPHA:90653 |
| Noonan Syndrome 13 |
|
Bruising susceptibility, Lymphedema, Mitral regurgitation, Mitral valve prolapse, Microcephaly, A... |
OMIM:619087 |
| Cohen Syndrome |
|
Facial hypotonia, Optic atrophy, Microcephaly, Mitral valve prolapse |
OMIM:216550 |
| Beta-Ketothiolase Deficiency |
|
Pallor, Dehydration, Edema |
ORPHA:134 |
| Hereditary Elliptocytosis |
|
Hydrops fetalis, Skin ulcer |
ORPHA:288 |
| Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Carious teeth, Short tibia, Pursed lips, Metaphyseal rarefaction, Bowing of the lon... |
OMIM:601559 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab... |
ORPHA:95430 |
| Limb Body Wall Complex |
|
Abnormal heart morphology, Myelomeningocele, Abnormality of the liver, Diastasis recti, Congenita... |
ORPHA:2369 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Congenital pulmonary airway malformation, Interface hepatitis, Ventricular septal d... |
OMIM:243150 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Hypopigmentation of the skin, Widely spaced teeth, Protruding tongue, Hypo... |
ORPHA:98794 |
| Degcags Syndrome |
|
Chronic kidney disease, Cholestasis, Hepatosplenomegaly, Ventricular septal defect, Chordee, Abno... |
OMIM:619488 |
| Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Fg Syndrome Type 1 |
|
Umbilical hernia, Mitral valve prolapse, Coarctation of aorta, Pulmonary arterial hypertension, P... |
ORPHA:93932 |
| Frank-Ter Haar Syndrome |
|
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... |
OMIM:249420 |
| Stromme Syndrome |
|
Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Myopathy, Hydronephrosis, Microcephaly,... |
OMIM:243605 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Secondary microcephaly, Arthrogryposis multiplex congenita, Patent foramen ovale, Ventricular sep... |
OMIM:614961 |
| Diphallia |
|
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... |
ORPHA:227 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Arterial stenosis, Venous i... |
ORPHA:565 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Neuroendocrine neoplasm, Increased circulating cortisol level, Meningioma, Inc... |
ORPHA:189427 |
| Developmental And Epileptic Encephalopathy 1 |
|
Micropenis, Microcephaly, Microphthalmia |
OMIM:308350 |
| Kawasaki Disease |
|
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... |
ORPHA:2331 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Holoprosencephaly, Anterior encephalocele, Ventricular septal defect |
OMIM:601357 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm, Bruising susceptibility, Oligohydramnios, Mitral valve prolapse, Hydrocepha... |
OMIM:616914 |
| Woodhouse-Sakati Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Hypogonadism, S... |
ORPHA:3464 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Optic atrophy, Microcephaly, Lymphedema |
OMIM:152950 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Bruising susceptibility, Hypertrophic cardiomyopathy, Mitral valve prolapse... |
OMIM:619745 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Venous insuff... |
ORPHA:743 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Ankle flexion contracture, Unilateral renal agenesis, Aortic regurgitation... |
ORPHA:464311 |
| Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pallor |
ORPHA:90045 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Microcephaly, Dextrocardia, Hyp... |
ORPHA:96097 |
| C Syndrome |
|
Renal cortical cysts, Ventricular septal defect, Microcephaly, Hepatomegaly, Patent ductus arteri... |
OMIM:211750 |
| Livedoid Vasculopathy |
|
Macular purpura, Ischemic stroke, Venous insufficiency, Ecchymosis, Telangiectasia of the skin, A... |
ORPHA:542643 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Microcephaly, Flexion contracture, Atrial septal defect, Ventricular septal defect |
OMIM:617452 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Alagille Syndrome 1 |
|
Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Focal segmental glomerul... |
OMIM:118450 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Iris transillumination defect, Generalized hypopigmentation, Microphthalmia |
OMIM:617306 |
| Congenital Contractural Arachnodactyly |
|
Congenital contracture, Camptodactyly of finger, Mitral valve prolapse, Aortic aneurysm, Flexion ... |
ORPHA:115 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Narrow mouth, Sy... |
ORPHA:990 |
| Fontaine Progeroid Syndrome |
|
Microcephaly, Umbilical hernia, Abnormal heart morphology, Tricuspid regurgitation, Oligohydramni... |
OMIM:612289 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect, Lower limb hypertonia |
OMIM:619995 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Incr... |
ORPHA:97287 |
| Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Coarctation of aorta, Hydrops fetalis, Premature birth |
ORPHA:50945 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Mitral valve prolapse, Lymphedema |
ORPHA:1563 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Muscular dystrophy, Abnormally large globe, Microcephaly, Progressive microcephaly, Hydrocephalus... |
OMIM:615249 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Joint contracture of the hand, Hydranencephaly, Stillbirth, Small placenta, Po... |
OMIM:256520 |
| H Syndrome |
|
Varicose veins, Upper eyelid edema, Hepatosplenomegaly, Facial telangiectasia, Abnormal cardiovas... |
ORPHA:168569 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... |
OMIM:619910 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microcephaly, Abnormal cardiac septum morphology, Microphthalmia |
ORPHA:1352 |
| Marfan Syndrome |
|
Increased axial length of the globe, Aortic root aneurysm, Mitral regurgitation, Mitral valve pro... |
ORPHA:558 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Macroglossia, Cheilitis |
ORPHA:2483 |
| Warburg Micro Syndrome 3 |
|
Optic atrophy, Decreased muscle mass, Secondary microcephaly, Microcephaly, Microphthalmia, Micro... |
OMIM:614222 |
| Raine Syndrome |
|
Low-set ears, Natal tooth, Micromelia, Long hallux, Wide mouth, Narrow mouth, Protruding tongue, ... |
OMIM:259775 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Microcephaly, Optic disc coloboma, Ventricular septal defect |
OMIM:613398 |
| Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydroureter, Abnormal lung lobation, Distal urethral duplication, Ventricular s... |
OMIM:146510 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl... |
OMIM:618223 |
| Hereditary Mucoepithelial Dysplasia |
|
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth |
ORPHA:1839 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Purpura, Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency |
ORPHA:745 |
| Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
| Poland Syndrome |
|
Acute leukemia, Abnormality of the liver, Cryptorchidism, Diabetes mellitus, Neoplasm of the brea... |
ORPHA:2911 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor |
OMIM:617675 |
| Esophageal Atresia |
|
Tetralogy of Fallot, Absence of stomach bubble on fetal sonography, Pallor, Ventricular septal de... |
ORPHA:1199 |
| Aspartylglucosaminuria |
|
Macroorchidism |
ORPHA:93 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Muscular edema, Right bun... |
ORPHA:268 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... |
ORPHA:100082 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... |
OMIM:214500 |
| ERI1-related disease |
|
Abnormal heart morphology, Tricuspid regurgitation, Vesicoureteral reflux, Ventricular septal def... |
OMIM:608739 |
| Bohring-Opitz Syndrome |
|
Polyhydramnios, Vesicoureteral reflux, Ventricular septal defect, Hyperechogenic pancreas, Microc... |
OMIM:605039 |
| Ogden Syndrome |
|
Cardiogenic shock, Ventricular septal defect, Pulmonary artery stenosis, Arrhythmia, Torticollis |
ORPHA:276432 |
| Moebius Syndrome |
|
Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly, Microphthalmia, Micro... |
OMIM:157900 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Fibul... |
OMIM:616300 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... |
ORPHA:555877 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Dilation of Virchow-Robin spaces, Contracture of the proximal interphalangeal joint of the 2nd fi... |
OMIM:300998 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Dental Anomalies And Short Stature |
|
Mitral valve prolapse |
OMIM:601216 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Unilateral renal agenesis, Renal hypoplasia, Aortic root aneurysm, Umbil... |
OMIM:620654 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, Protruding ear, Glossoptosis |
ORPHA:2031 |
| Aspartylglucosaminuria |
|
Macroorchidism |
OMIM:208400 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran... |
OMIM:619525 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Mosaic Trisomy 16 |
|
Abnormal heart morphology, Horseshoe kidney, Large placenta, Ventricular septal defect, Single co... |
ORPHA:1708 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Clinodactyly, Radial deviation of finger, Widely-spaced maxillary central incisors,... |
OMIM:301040 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Recurrent upper respiratory tract infections, Capillary hemangioma, Bilateral c... |
OMIM:180849 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Prolonged bleeding following circumcision, Tetralogy of Fallot, Atrioventricular canal defect, He... |
OMIM:274000 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal translucency, Redund... |
ORPHA:3472 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Polyhydramnios, Ventricular septal defect, Microcephaly, Atrial septal defect, Camptodactyly, Spi... |
OMIM:617360 |
| Leigh Syndrome |
|
Optic atrophy, Hepatic failure, Generalized aminoaciduria, Skeletal muscle atrophy, Methylmalonic... |
ORPHA:506 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Umbilical hernia, Hypoplastic aortic arch, Anophthalmia, Mitral valve prol... |
OMIM:300166 |
| Ogden Syndrome |
|
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Arrhythmia... |
OMIM:300855 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure, Arteriovenous malformation, Lymphangioma, Venous insufficiency |
ORPHA:137608 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Ventricular septal defect, Hepatob... |
ORPHA:373 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Hypoplasia of the iris, Congenital diaphragmatic hernia, Ventricular septal def... |
OMIM:222448 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Microphthalmia |
OMIM:612379 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Neonatal death, ... |
OMIM:617925 |
| Aicardi-Goutières Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, He... |
ORPHA:51 |
| Robinow Syndrome |
|
Low-set ears, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Meso... |
ORPHA:97360 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Limb joint contracture, Microcephaly, Atrial septal defect, Ventricular septal defect |
ORPHA:505237 |
| Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Abnormality of the spleen, Delayed menarche, Cryptorchidism, Pu... |
ORPHA:648 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Edema |
ORPHA:329971 |
| Catel-Manzke Syndrome |
|
Low-set ears, Hyperphalangy of the 2nd finger, Bifid uvula, Short toe, Cleft upper lip, Ulnar dev... |
OMIM:616145 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular septal defect, Hydronephrosis, ... |
ORPHA:1780 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hydrops fetalis, Atrial septal defect, Ventricular septal defect |
OMIM:263520 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Tetralogy of Fallot, Glandular hypospadias,... |
ORPHA:2473 |
| Smith-Lemli-Opitz Syndrome |
|
Optic atrophy, Multicystic kidney dysplasia, Abnormal lung lobation, Atrioventricular canal defec... |
ORPHA:818 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Low-set ears, Narrow palate, Dental crowding, Sandal gap, Broad hallux, Hearing impairment, Long ... |
OMIM:616078 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Bicuspid ... |
OMIM:610443 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Absent gallbladder, Barrel-shaped chest, Ventricular septal defect, Hydr... |
OMIM:300712 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema |
ORPHA:1054 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Microcephaly, Pulmonary arterial hypertension, Atrial septal defect, M... |
ORPHA:2519 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Oligohydramnios, Cardiomegaly, Impaired myocardial contractility |
ORPHA:158687 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Low-set ears, Thin upper lip vermilion, Talipes equinovarus, Glossitis, Tracheoesophageal fistula... |
OMIM:277380 |
| Steinfeld Syndrome |
|
Abnormal heart morphology, Holoprosencephaly, Absent gallbladder, Microphthalmia |
OMIM:184705 |
| Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
| Pmm2-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Anasarca, Aspiration p... |
ORPHA:79318 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Mitral valve pro... |
ORPHA:500095 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypopigmentation of the skin, Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters, Gen... |
ORPHA:79396 |
| Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Microphthalmia |
OMIM:619135 |
| Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Optic disc hypoplasia, Secondary microcephaly, Ventricular septal defect, Flexi... |
OMIM:619306 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgi... |
ORPHA:2556 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Annular pancreas, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal ... |
OMIM:616975 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Microcephaly, Microphthalmia, Micro... |
OMIM:206900 |
| Curry-Jones Syndrome |
|
Hypopigmented skin patches, Microphthalmia |
ORPHA:1553 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Megacystis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal ... |
ORPHA:209905 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Optic disc coloboma, Microphallus, Umbilical hernia, Vesicoureteral reflux, Con... |
OMIM:618454 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal heart morphology, Patent foramen ovale, Contracture of the proximal interphalangeal join... |
ORPHA:457279 |
| De Barsy Syndrome |
|
Decreased muscle mass, Prominent veins on trunk, Umbilical hernia, Ventricular septal defect, Per... |
ORPHA:2962 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Hearing impairment, Furrowed tongue, Narrow mouth, Palmoplantar hyperkeratos... |
OMIM:615108 |
| Double Outlet Left Ventricle |
|
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... |
ORPHA:3427 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... |
OMIM:613795 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Hors... |
OMIM:120330 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... |
OMIM:614105 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... |
OMIM:619991 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Enlarged polycystic ovaries, Testicular neoplasm, Macroorchidism,... |
ORPHA:744 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... |
OMIM:619472 |
| Kury-Isidor Syndrome |
|
Hydronephrosis, Ventricular septal defect |
OMIM:619762 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Bruising susceptibility, Vascular dilatation, Varicose veins, Camptodactyly, P... |
OMIM:618343 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis |
OMIM:224120 |
| Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Umbilical hernia, Abnormal heart morphology, Vesicoureteral reflux, Congeni... |
ORPHA:2745 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Oligohydramnios, Multiple... |
ORPHA:464306 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... |
OMIM:610168 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tetralogy of Fallot, Renal insufficiency, Vesicoureteral reflux, Ventricular septal defect, Coarc... |
OMIM:617159 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventricular hypertrophy, L... |
ORPHA:308552 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Atrial septal defect, R... |
OMIM:610978 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Absent gallbladder, Ventricular septal defect, Hydronephrosis, Microceph... |
ORPHA:163979 |
| Charge Syndrome |
|
Interrupted aortic arch, Optic atrophy, Umbilical hernia, Tetralogy of Fallot, Horseshoe kidney, ... |
ORPHA:138 |
| Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Tongue atrophy, Hearing impairment |
OMIM:614153 |
| Hypomandibular Faciocranial Dysostosis |
|
Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate |
ORPHA:1790 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Optic disc coloboma, Ventricular septal defect, Pectus excavatum, Recurrent ... |
OMIM:300472 |
| Pierson Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the iris, Oligohydramnios, Stage 5 chronic kidney disease,... |
OMIM:609049 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Venous malformation, Occipital encephalocele, Abnormal cerebral vein morphology |
ORPHA:60015 |
| Filippi Syndrome |
|
Optic atrophy, Microcephaly, Ventricular septal defect |
ORPHA:3255 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Horseshoe kidney, Vesicoureteral reflux, Ventricular septal defect, Microcephaly, Dysplastic pulm... |
OMIM:619103 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... |
OMIM:617506 |
| Frontorhiny |
|
Finger clinodactyly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Brachydactyly, C... |
ORPHA:391474 |
| Geleophysic Dysplasia 2 |
|
Aortic valve stenosis, Mitral stenosis, Mitral valve prolapse, Mitral regurgitation, Pulmonary ar... |
OMIM:614185 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Fetal polyuria, Polyhydramnios, Hydrops fetalis, Edema, Premature birth |
OMIM:602522 |
| Autosomal Dominant Robinow Syndrome |
|
Low-set ears, Finger syndactyly, Hearing impairment, Elbow dislocation, Open bite, Anodontia, Sho... |
ORPHA:3107 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormally large globe, Aortic root aneurysm, Elbow flexion contracture, Congenital diaphragmatic... |
OMIM:245600 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Mitral valve prolapse, Carotid a... |
OMIM:618000 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Branchial fistula, Optic disc coloboma, Camptodactyly of finger, Tricu... |
ORPHA:261337 |
| 8P11.2 Deletion Syndrome |
|
Splenomegaly, Mitral valve prolapse, Microcephaly, Atrial septal defect, Hypoplasia of penis, Pat... |
ORPHA:251066 |
| Insulin-Like Growth Factor I, Resistance To |
|
Rieger anomaly, Patent foramen ovale, Ventricular septal defect, Microcephaly, Atrial septal defe... |
OMIM:270450 |
| Costello Syndrome |
|
Hypertrophic cardiomyopathy, Vestibular schwannoma, Renal insufficiency, Barrel-shaped chest, Ven... |
OMIM:218040 |
| 19P13.3 Microduplication Syndrome |
|
Microcephaly, Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
| Watson Syndrome |
|
Lisch nodules, Neurofibroma |
OMIM:193520 |
| Hypomandibular Faciocranial Dysostosis |
|
Aglossia, Pursed lips |
OMIM:241310 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
| Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Pallor, Dehydration, Cardiomyopathy |
ORPHA:2131 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Neoplasm, Cryptorchidism, Cholesteatoma, Astrocytoma, Hemangioma, Hypo... |
ORPHA:821 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Optic disc coloboma, Patent foramen ovale, Prolonged neonatal jaundice, Aplasia o... |
OMIM:620186 |
| Hydrolethalus |
|
Polyhydramnios, Anophthalmia, Microphthalmia |
ORPHA:2189 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Pectus excavatum, Patent ductus arteriosus, Optic disc coloboma, Ventricular septal defect |
ORPHA:52055 |
| Arthrogryposis, Distal, Type 12 |
|
Ankle flexion contracture, Knee flexion contracture, Hand muscle atrophy, Mitral valve prolapse, ... |
OMIM:620545 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Pectus excavatum, Microphthalmia |
ORPHA:1438 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
| Tbck-Related Intellectual Disability Syndrome |
|
Macroglossia, Skeletal muscle atrophy, Oligohydramnios, Diastasis recti, Ventricular septal defec... |
ORPHA:488632 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Mitral valve prolapse, Pulmonary bulla, Diffuse alveolar hemorrhage, Dilatation of the cerebral a... |
OMIM:130050 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic root aneurysm, Bruising susceptibility, Atelectasis, Ascending tubular aorta aneurysm, Oli... |
ORPHA:536467 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Umbilical hernia, Ureteral triplication, Mitral valve prolapse, Hydronephrosis, Hydrocephalus, Pe... |
OMIM:104350 |
| Marfan Syndrome |
|
Increased axial length of the globe, Aortic root aneurysm, Decreased muscle mass, Mitral regurgit... |
OMIM:154700 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Multicystic kidney dysplasia, Abnormal lung lobation, Aplasia/Hypoplasia of the lu... |
ORPHA:3301 |
| Charge Syndrome |
|
Unilateral microphthalmos, Anophthalmia, Ventricular septal defect, Overriding aorta, Atrial sept... |
OMIM:214800 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat... |
OMIM:607459 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Abnormal T-wave, Ureteropelvic junction obstruction, Mitral valve prolaps... |
ORPHA:444072 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Secondary microcephaly, Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Pulmona... |
OMIM:620113 |
| Mend Syndrome |
|
Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal heart morphology, Limb hyper... |
ORPHA:401973 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Optic disc coloboma, Tetralogy of Fallot, Horseshoe kidney, Crossed fused ... |
ORPHA:959 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Tubulointerstitial nephritis, Ventricular septal defect |
OMIM:616901 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Dehydration |
OMIM:246450 |
| 2Q31.1 Microdeletion Syndrome |
|
Optic disc coloboma, Camptodactyly of finger, Ventricular septal defect, Microcephaly, Atrial sep... |
ORPHA:251014 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Umbilical hernia, Ventricular septal defect |
ORPHA:1770 |
| Mowat-Wilson Syndrome |
|
Abnormal enteric ganglion morphology, Abnormal heart morphology, Ventricular septal defect, Pulmo... |
OMIM:235730 |
| Pearson Syndrome |
|
Cardiomyopathy, Abnormal heart morphology, Corneal stromal edema, Hydrops fetalis, Dehydration |
ORPHA:699 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Microphthalmia |
OMIM:601794 |
| Atelis Syndrome 2 |
|
Microcephaly, Vitreous hemorrhage, Microphthalmia, Supravalvar pulmonary stenosis, Patent ductus ... |
OMIM:620185 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Abnormality of th... |
ORPHA:363618 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Tongue atrophy, Hearing impairment |
ORPHA:276198 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Hearing impairment, Furrowed tongue, Narrow mouth, Palmoplantar hyperkeratos... |
OMIM:615109 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Micropenis, Microcephaly, Microphthalmia, Camptodactyly of finger |
OMIM:610756 |
| Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism |
ORPHA:638 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Optic atrophy, Joint contracture of the hand, Hypoplasia of t... |
OMIM:251300 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Pulmonary arterial hypertension, Hypertension |
OMIM:613320 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Feingold Syndrome 1 |
|
Accessory spleen, Interrupted aortic arch, Annular pancreas, Polysplenia, Ventricular septal defe... |
OMIM:164280 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Bronchogenic cyst, Splenomegaly, Venous insufficiency, Hydrocephalus, Communi... |
ORPHA:2969 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Hyperpigmented nevi, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Bruising susceptibility, Decreased muscle mass, Mitral regurgitation, Paten... |
OMIM:615582 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Absent gallbladder, Microcephaly, Overriding aorta, Microphthalmia, Holopros... |
ORPHA:3186 |
| Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration pneumonia, Abnormal heart morphology, Te... |
ORPHA:1465 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent... |
OMIM:301043 |
| Cerebrocostomandibular Syndrome |
|
Low-set ears, Anal stenosis, Carious teeth, Conductive hearing impairment, Cleft lip, Long philtr... |
OMIM:117650 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micropenis, Secondary microcephaly, Ventricular septal defect |
OMIM:620073 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Perimembranous ventricular septal defect, Atrial septal defect, Microp... |
OMIM:158170 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Temtamy Syndrome |
|
Aortic regurgitation, Microphthalmia |
OMIM:218340 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
| Phelan-Mcdermid Syndrome |
|
Lymphedema, Vesicoureteral reflux, Ventricular septal defect, Microcephaly, Palpebral edema, Poly... |
OMIM:606232 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Microcephaly, Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Encep... |
OMIM:613150 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Neonatal death, Mi... |
OMIM:620024 |
| Gaucher Disease |
|
Aortic valve calcification, Cherry red spot of the macula, Abnormal pericardium morphology, Abnor... |
ORPHA:355 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Secondary microcephaly, Atrial septal defect, Mitral valve prolapse |
OMIM:300986 |
| Clapo Syndrome |
|
Lymphedema, Venous malformation, Varicose veins, Pectus excavatum, Lymphangioma |
ORPHA:168984 |
| Cardiospondylocarpofacial Syndrome |
|
Mitral regurgitation, Mitral valve prolapse |
ORPHA:3238 |
| Psoriasis 14, Pustular |
|
Furrowed tongue, Geographic tongue |
OMIM:614204 |
| Marshall-Smith Syndrome |
|
Conductive hearing impairment, Gingival overgrowth, Open mouth, Protruding tongue, Bowing of the ... |
ORPHA:561 |
| Aicardi Syndrome |
|
Precocious puberty, Optic atrophy, Recurrent pneumonia, Optic disc coloboma, Metastatic angiosarc... |
OMIM:304050 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Elbow flexion contracture, Hip contracture, Knee flexion contracture, Barrel-s... |
OMIM:178110 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Hepatic ... |
OMIM:175050 |
| Cockayne Syndrome |
|
Microphthalmia, Urinary incontinence, Nephrotic syndrome, Hepatomegaly, Optic disc pallor, Vascul... |
ORPHA:191 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Low-set ears, Macroglossia, Protruding tongue |
OMIM:242860 |
| 19Q13.11 Microdeletion Syndrome |
|
Microcephaly, Recurrent respiratory infections, Hypospadias, Ventricular septal defect |
ORPHA:217346 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Oligohydramnios, Microphthalmia |
ORPHA:228390 |
| Marshall-Smith Syndrome |
|
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Irregular dentition, B... |
OMIM:602535 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Macroglossia, Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Ventricular septal defect |
OMIM:618325 |
| Kinsship Syndrome |
|
Low-set ears, Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teeth, Ankylo... |
OMIM:619297 |
| Garg-Mishra Progeroid Syndrome |
|
Secondary microcephaly, Increased circulating lactate dehydrogenase concentration, Microphthalmia... |
OMIM:620601 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Fetal ascites, Abnormal lung lobation, Abnormality of the ureter, Anomalo... |
ORPHA:141127 |
| Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Ectopi... |
OMIM:613309 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Abnormal circulating enzyme concentration or activity, Ventricular septal ... |
ORPHA:79345 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Multicystic kidney dysplasia, Oligohydramnios, Polyhydramnios, Ven... |
OMIM:300373 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Ankle flexion contracture, Hypospadias, Long penis, Stillbirth, Elbow flexion c... |
OMIM:268300 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Thoracic Outlet Syndrome |
|
Edema, Varicose veins |
ORPHA:97330 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Renal hypoplasia, Tetralogy of Fallot, Situs inversus totalis, Phi... |
OMIM:309500 |
| Sotos Syndrome |
|
Muscular ventricular septal defect, Ventricular septal defect, Atrial septal defect, Prolonged ne... |
OMIM:117550 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Recurrent pneumonia, Elbow flexion contracture, Horseshoe kidney, Mitral valve prolapse, Distal l... |
ORPHA:508533 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosi... |
ORPHA:96167 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction |
OMIM:208000 |
| Leopard Syndrome 1 |
|
Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bund... |
OMIM:151100 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Epistaxis, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, ... |
ORPHA:285 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Distal upper limb amyotrophy, Hand... |
ORPHA:101085 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
| Renal Agenesis |
|
Unilateral renal agenesis, Ureteral agenesis, Oligohydramnios, Renal insufficiency, Ventricular s... |
ORPHA:411709 |
| Icf Syndrome |
|
Low-set ears, Macroglossia, Protruding tongue |
ORPHA:2268 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Vesicoureteral reflux, Ventricular septal defect, Aganglionic megacolon, Mi... |
OMIM:609460 |
| Neonatal Marfan Syndrome |
|
Abnormal cardiac ventricle morphology, Aortic root aneurysm, Emphysema, Tricuspid regurgitation, ... |
ORPHA:284979 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low-set ears, Gingival overgrowth, Wide mouth, Protruding tongue |
OMIM:618797 |
| Rabson-Mendenhall Syndrome |
|
Abnormality of the dentition, Dental crowding, Premature graying of hair, Furrowed tongue, Gingiv... |
ORPHA:769 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Pulmonary hypoplasia, Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Carious teeth, Irregular hyperpigmentation, Anal fissure, Esophageal stricture, Ankyloglossia, Na... |
ORPHA:89842 |
| Dysosteosclerosis |
|
Optic atrophy, Abnormal cranial nerve morphology, Ventricular septal defect |
ORPHA:1782 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| X Small Rings |
|
Aortic root aneurysm, Oligohydramnios, Mitral stenosis, Ventricular septal defect, Bicuspid aorti... |
ORPHA:96201 |
| Williams Syndrome |
|
Mitral regurgitation, Myopathy, Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic... |
ORPHA:904 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Ventricular septal defect |
OMIM:617895 |
| Teebi Hypertelorism Syndrome 1 |
|
Pulmonary hypoplasia, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Abnormal lung lobation, Ventricular septal defect, Microcephaly, Coarctatio... |
OMIM:614114 |
| Amyloidosis, Hereditary Systemic 1 |
|
Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Nephrocalcinosis, Biventricular hypertrophy, Tricuspid regurgitation, Oligo... |
OMIM:617402 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema, Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip tela... |
ORPHA:79280 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Increased nuchal translucency, Vesicoureteral reflux, Branchial anomal... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Increased nuchal translucency, Vesicoureteral reflux, Branchial anomal... |
ORPHA:352665 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Hepatomegaly, Vent... |
OMIM:270400 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Small hand, Rocker bottom foot, Bilateral conductive hearing impairment, Hearing impairment, Clin... |
ORPHA:488642 |
| 3Mc Syndrome 1 |
|
Diastasis recti, Ventricular septal defect, Hydronephrosis, Conjunctival telangiectasia, Microcep... |
OMIM:257920 |
| 16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Microcephaly, Atrial septal defect, Pectus ex... |
ORPHA:261236 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries, Single umbilical artery |
OMIM:617982 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Mitral regurgitation, Abnormal aortic valve morphology... |
ORPHA:2462 |
| Au-Kline Syndrome |
|
Bifid uvula, Dental malocclusion, Downturned corners of mouth, Overlapping toe, Open mouth, Senso... |
OMIM:616580 |
| Leukocyte Adhesion Deficiency |
|
Pneumonia, Abnormality of neutrophil physiology, Polycythemia, Leukocytosis, Respiratory tract in... |
ORPHA:2968 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Hearing impairment, Upper limb undergrowth... |
ORPHA:94068 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Pulmonary cyst, Recurrent pneumonia, Recurrent upper respiratory tract infections, Increased hepa... |
OMIM:147060 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Interrupted inferio... |
OMIM:618846 |
| Sprengel Deformity |
|
Spina bifida occulta, Neck muscle hypoplasia, Shoulder muscle hypoplasia |
OMIM:184400 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Enuresis, Congenital diaphragmatic hernia, Vent... |
ORPHA:96121 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Optic atrophy, Renal tubular acidosis, Patent foramen ovale, Ventricular septal defect, Microceph... |
OMIM:613457 |
| Myopathy, Myofibrillar, 7 |
|
Elbow flexion contracture, Talipes equinovarus, Tongue atrophy |
OMIM:617114 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... |
OMIM:192430 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Difficulty in tongue ... |
ORPHA:99956 |
| Treacher-Collins Syndrome |
|
Abnormality of the dentition, Conductive hearing impairment, Cleft upper lip, Tooth agenesis, Nar... |
ORPHA:861 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, ... |
OMIM:614947 |
| Frontofacionasal Dysplasia |
|
Brushfield spots, Microphthalmia |
ORPHA:1791 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Exencephaly, Hypospadias, Epispadias |
ORPHA:2211 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Myelomeningocele, Ventricular septal defect, Micro... |
ORPHA:1393 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, Hearing impairment, Hand muscle atrophy, Sensorineural hearing impairment,... |
OMIM:211530 |
| Warburg Micro Syndrome 2 |
|
Optic atrophy, Secondary microcephaly, Microcephaly, Microphthalmia, Micropenis, Flexion contracture |
OMIM:614225 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Secondary microcephaly, Ventricular septal defect, Bicuspid aortic valve, Atrial sep... |
OMIM:610759 |
| Oculodentodigital Dysplasia |
|
Joint contracture of the 5th finger, Microcephaly, Arrhythmia, Neurogenic bladder, Atrial septal ... |
OMIM:164200 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Total anomalous pulmonary venous return, Horseshoe kidney, Knee flexion contracture, Microcephaly... |
OMIM:609945 |
| Niemann-Pick Disease Type C |
|
Fetal ascites, Ascites, Foam cells, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops... |
ORPHA:646 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Premature birth |
ORPHA:40366 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Vesicoureteral reflux, Hand muscle atro... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Cardiomyopathy, Abnormal heart morphology, Vesicoureteral reflux, Hand muscle atro... |
ORPHA:363958 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Hepatoblastoma, Arrhythmia, Atrial se... |
OMIM:312870 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Abnormally large globe, Abnormal heart morphology, Abnormal left ventricle... |
ORPHA:2729 |
| Diamond-Blackfan Anemia 1 |
|
Pallor, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Small thenar emine... |
OMIM:105650 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Odontoonychodermal Dysplasia |
|
Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t... |
OMIM:257980 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Vascular granular osmiophilic material deposition, Urinary incontinence, Nonarteritic anterior is... |
OMIM:125310 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Umbilical hernia, Mitral stenosis, Splenomegaly, Ventricular septal defect... |
ORPHA:955 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Coffin-Siris Syndrome 4 |
|
Pulmonary artery atresia, Mitral atresia, Ventricular septal defect, Microcephaly, Atrial septal ... |
OMIM:614609 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Oligohydramnios, Cardiomegaly, Arrhythmia, Hepatomegaly, Antenatal intrac... |
OMIM:608836 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Nephrotic syndrome, Bruising susceptibility, Umbilical hernia, Tricuspid re... |
OMIM:601776 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Tricuspid regurgitation, Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Pulmon... |
OMIM:620663 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Ventricular septal defec... |
ORPHA:436252 |
| Monosomy 9Q22.3 |
|
Umbilical hernia, Cardiac fibroma, Hydrocephalus, Microphthalmia, Pectus excavatum, Rhabdomyosarcoma |
ORPHA:77301 |
| Diamond-Blackfan Anemia 5 |
|
Hypospadias, Ventricular septal defect |
OMIM:612528 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase activity, Ventricular septal defect |
OMIM:615550 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Hearing impairment, Furrowed tongue, Narrow mouth, Palmoplantar hyperkeratos... |
OMIM:158350 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Camptodactyly of 2nd-5th fingers, Interrupted inferior vena cava with azygous conti... |
OMIM:206920 |
| Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Camptodactyly of finger, Ventricular septal defect, Arrhythmia, Hypoplasia of p... |
ORPHA:3138 |
| Wrinkly Skin Syndrome |
|
Hypoplasia of the musculature, Umbilical hernia, Muscular ventricular septal defect, Microcephaly... |
OMIM:278250 |
| Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse |
OMIM:229200 |
| Chand Syndrome |
|
Short fifth metatarsal, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton... |
ORPHA:1401 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Venous malformation, Splenomegaly, Spinal dysraphism |
OMIM:612918 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Conductive hearing impairment, Premature loss of teeth, Recurrent otitis media, Overlapping toe, ... |
ORPHA:99843 |
| Distal Deletion 12Q |
|
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Larg... |
ORPHA:96149 |
| Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Mitral valve p... |
OMIM:142900 |
| Helsmoortel-Van Der Aa Syndrome |
|
Low-set ears, Small hand, Carious teeth, Ankyloglossia, Genu valgum, Everted lower lip vermilion,... |
OMIM:615873 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Microphthalmia |
ORPHA:1806 |
| Meier-Gorlin Syndrome 7 |
|
Second degree atrioventricular block, Heart block, Vesicoureteral reflux, Complete atrioventricul... |
OMIM:617063 |
| Johanson-Blizzard Syndrome |
|
Elevated gamma-glutamyltransferase level, Ventricular septal defect, Elevated circulating alanine... |
OMIM:243800 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Microdontia, Sensorineural hearing ... |
OMIM:148210 |
| Neu-Laxova Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2671 |
| Juvenile Sialidosis Type 2 |
|
Low-set ears, Protruding tongue, Gingival overgrowth, Hearing impairment |
ORPHA:93399 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Pallor |
OMIM:301310 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Abnormal lung morphology, Flexion contracture, Microphthalmia |
ORPHA:35173 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect |
OMIM:619895 |
| Incontinentia Pigmenti |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Congestive heart failure, Cerebral ische... |
ORPHA:464 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Mitral valve prolapse, Microcephaly, Aortic aneu... |
OMIM:182212 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
| Angelman Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Fair hair, Widely spaced teeth, Protruding t... |
ORPHA:72 |
| Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Umbi... |
OMIM:300989 |
| Autoimmune Lymphoproliferative Syndrome |
|
Vasculitis, Hydrops fetalis |
ORPHA:3261 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Prolonged neonatal jaundice, Atrial septal defect, Po... |
OMIM:210710 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Pigmentary retinopathy, Freckling, Microphthalmia |
OMIM:610651 |
| Hand-Foot-Genital Syndrome |
|
Abnormality of the urethra, Vesicoureteral reflux, Ureteropelvic junction obstruction, Ventricula... |
ORPHA:2438 |
| Lateral Meningocele Syndrome |
|
Pectus excavatum, Meningocele, Umbilical hernia, Ventricular septal defect |
ORPHA:2789 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Orotic Aciduria |
|
Oroticaciduria, Ventricular septal defect, Hematuria, Atrial septal defect, Reduced orotidine 5-p... |
OMIM:258900 |
| Acrodermatitis Enteropathica |
|
Abnormality of the tongue, Furrowed tongue, Glossitis, Cheilitis |
ORPHA:37 |
| Proboscis Lateralis |
|
Unilateral renal agenesis, Duplication of renal pelvis, Optic disc coloboma, Ureteral agenesis, A... |
ORPHA:141099 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Optic disc coloboma, Camptodactyly of finger, Hydronephrosis, Microcephaly, Micropht... |
ORPHA:568 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulval varicose v... |
ORPHA:71273 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233710 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Acrofacial Dysostosis 1, Nager Type |
|
Unilateral renal agenesis, Tetralogy of Fallot, Congenital diaphragmatic hernia, Ventricular sept... |
OMIM:154400 |
| Vascular Ehlers-Danlos Syndrome |
|
Mitral valve prolapse, Hypospadias, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac a... |
ORPHA:286 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Optic nerve hypoplasia, Ventricular septal defect |
ORPHA:261250 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Low-set ears, Cupped ear, Broad hallux, Clinodactyly of the 5th finger, Protruding tongue, Single... |
OMIM:617062 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Abnormal heart morphology, Dilatation of the ventricular cavity, Thickened ... |
ORPHA:85438 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Muscular dystrophy, Congenital contracture, Occipital encephalocele, Microcephaly,... |
OMIM:236670 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Hydronephrosis, Microcephaly, Micropenis, Ventricular septal defect |
OMIM:617798 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Camptodactyly of finger, Tetralogy of Fallot, Pectoral muscle hypoplasi... |
ORPHA:306542 |
| Microcephaly-Micromelia Syndrome |
|
Oligohydramnios, Neonatal death, Microcephaly, Microphthalmia, Aqueductal stenosis, Pulmonary hyp... |
OMIM:251230 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Microcephaly, Progressive microcephaly, Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Cornelia De Lange Syndrome 1 |
|
Pneumonia, Optic atrophy, Renal hypoplasia, Optic disc coloboma, Elbow flexion contracture, Reduc... |
OMIM:122470 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Joint contracture of the hand, Umbilical hernia, Mitral regurgitation, Mitr... |
OMIM:611962 |
| Zttk Syndrome |
|
Aortic regurgitation, Optic atrophy, Unilateral renal agenesis, Horseshoe kidney, Absent gallblad... |
OMIM:617140 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Microspherophakia, Congestive heart failure, Elbow flexion contracture, Um... |
OMIM:608328 |
| Orofaciodigital Syndrome Type 14 |
|
Postaxial foot polydactyly, Broad hallux, Lobulated tongue, Low-set, posteriorly rotated ears, Ha... |
ORPHA:434179 |
| Opitz Gbbb Syndrome |
|
Umbilical hernia, Rectourethral fistula, Vesicoureteral reflux, Ventricular septal defect, Microc... |
OMIM:300000 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Low-set ears, Overlapping fingers, Narrow mouth, Protruding tongue, Sensorineural hearing impairm... |
OMIM:608779 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Microcephaly, Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| 3Mc Syndrome 2 |
|
Hypoplasia of the musculature, Horseshoe kidney, Diastasis recti, Torticollis, Hypospadias, Parti... |
OMIM:265050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Hydrocephalus, Microphthalmia... |
OMIM:616538 |
| Phocomelia, Schinzel Type |
|
Hydrops fetalis |
ORPHA:2879 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Multicystic kidney dysplasia, Annular pancreas, Ve... |
ORPHA:2308 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hypopigmentation of the skin, Congestive heart failure, Hypertrophic cardio... |
OMIM:252500 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Congestive heart failure |
OMIM:619259 |
| Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Optic atrophy, Secundum atrial septal defect, Upper eyelid edema,... |
OMIM:616268 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Palmoplantar keratoderma, Chapp... |
ORPHA:158668 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess |
OMIM:233690 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Classical Ehlers-Danlos Syndrome |
|
Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Umbilical hernia, Dilatation ... |
ORPHA:287 |
| Stickler Syndrome, Type I |
|
Pectus excavatum, Mitral valve prolapse |
OMIM:108300 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Narrow mouth, Glossop... |
ORPHA:2108 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Subarachnoid hemo... |
ORPHA:91387 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Microspherophakia, Mitral regurgitation, Ventricular septal defect, Patent... |
OMIM:277600 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... |
OMIM:187300 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Optic disc coloboma, Renal insufficiency, Encephalocele, Renal cyst, Hydrocepha... |
OMIM:608091 |
| Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Microphthalmia, Micropenis, Ho... |
OMIM:613884 |
| Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Cardiac fibroma, Spina bifida, Hydrocephalus, Microphthalmia |
OMIM:109400 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis |
OMIM:617877 |
| Developmental And Epileptic Encephalopathy 31B |
|
Low-set ears, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Gm1-Gangliosidosis, Type Ii |
|
Gingival overgrowth, Narrow mouth, Protruding tongue, Limb undergrowth, Coxa valga |
OMIM:230600 |
| Micro Syndrome |
|
Optic atrophy, Hydronephrosis, Microcephaly, Microphthalmia, Hypoplasia of penis |
ORPHA:2510 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Ventricular septal de... |
OMIM:619575 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Abnormal cerebral vas... |
ORPHA:79474 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Hydronephrosis, Edema, Microphthalmia |
OMIM:302960 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia |
OMIM:617883 |
| Alzahrani-Kuwahara Syndrome |
|
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... |
OMIM:619268 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Macroglossia, Abnormal aortic arch morphology, Spinal dysraphism, Interphalangeal joint contractu... |
ORPHA:96334 |
| Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Polyhydramnios, Carotid artery tortuosity, Mitral valve prolapse, Tricuspid... |
OMIM:618371 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Hypoplasia of the iris, Decreased nerve condu... |
OMIM:133540 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Microglossia, Flared metaphysis, Aplasia/Hypoplasia of the middle p... |
OMIM:151050 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hyp... |
OMIM:614653 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal cerebral vascular morphology, Abnormal venous morphology, Abnormality of the lymphatic s... |
ORPHA:276280 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension |
OMIM:268800 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Secondary microcephaly, Oligohydramnios, Ventricular septal defect, Microcephaly, Recurrent lower... |
OMIM:619229 |
| Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Phthisis bulbi, Macular hypoplasia, Microphthalmia, Buphthalmos |
ORPHA:91495 |
| Joubert Syndrome 1 |
|
Low-set ears, Postaxial foot polydactyly, Clinodactyly, Triangular-shaped open mouth, Protruding ... |
OMIM:213300 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Mi... |
OMIM:600460 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aortic root aneurysm, Aspiration pneumonia, Abnormal heart morphology, Horseshoe kidney, Congesti... |
ORPHA:444077 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Trichothiodystrophy |
|
Cardiomyopathy, Umbilical hernia, Bilateral microphthalmos, Multiple joint contractures, Ventricu... |
ORPHA:33364 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Flexion contracture of finger, Prominent superficial veins, Joint contract... |
OMIM:601812 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Low-set ears, Clinodactyly, Genu valgum, Open mouth, Protruding tongue, Sensorineural hearing imp... |
OMIM:309580 |
| Distal Deletion 19P |
|
Tricuspid valve prolapse, Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect |
ORPHA:96129 |
| Frontonasal Dysplasia 2 |
|
Microcephaly, Oligohydramnios, Encephalocele, Microphthalmia |
OMIM:613451 |
| Brittle Cornea Syndrome |
|
Camptodactyly, Pulmonic stenosis, Bruising susceptibility, Mitral valve prolapse |
ORPHA:90354 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Hyphema, Microphthalmia |
OMIM:221900 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Fraser Syndrome 1 |
|
Renal hypoplasia, Bilateral microphthalmos, Abnormal heart morphology, Myelomeningocele, Encephal... |
OMIM:219000 |
| Hallermann-Streiff Syndrome |
|
Recurrent pneumonia, Optic disc coloboma, Telangiectasia, Microcephaly, Pulmonary arterial hypert... |
OMIM:234100 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Ramos-Arroyo Syndrome |
|
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Aganglionic megacolon, Bil... |
ORPHA:1051 |
| Microphthalmia With Limb Anomalies |
|
Optic atrophy, Camptodactyly of 2nd-5th fingers, Horseshoe kidney, True anophthalmia, Venous insu... |
ORPHA:1106 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Muscular dystrophy, Encephalocele, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia |
OMIM:614643 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hearing impairment, Downturned corners of mouth, Protruding tongue, Everted lower lip vermilion, ... |
ORPHA:96147 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst, Ventricular septal defect |
OMIM:250410 |
| Cerebellofaciodental Syndrome |
|
Microcephaly, Mitral valve prolapse, Ventricular septal defect |
OMIM:616202 |
| Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Freckling, Microphthalmia |
OMIM:601675 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia |
OMIM:169550 |
| Williams-Beuren Syndrome |
|
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... |
OMIM:194050 |
| Fanconi Anemia, Complementation Group R |
|
Microcephaly, Pelvic kidney, Hydrocephalus, Microphthalmia |
OMIM:617244 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Orofaciodigital Syndrome Xiv |
|
Low-set ears, Cleft lip, Natal tooth, Broad hallux, Anteriorly placed anus, Preaxial polydactyly,... |
OMIM:615948 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Secondary microcephaly, Ventricular... |
ORPHA:261552 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary artery stenosis, Abnormal pulmonary valve morphology, Pallor |
ORPHA:667 |
| Melnick-Needles Syndrome |
|
Ureteral stenosis, Mitral valve prolapse, Hydronephrosis, Tricuspid valve prolapse, Pulmonary art... |
OMIM:309350 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microcephaly, Joint contracture of the 5th finger, Microphthalmia |
OMIM:620098 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Tetralogy of Fallot with pulmonary stenosis, Stage 2 chronic kidney di... |
OMIM:620305 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Secondary microcephaly, Bicuspid aortic valv... |
ORPHA:261537 |
| Alström Syndrome |
|
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Ley... |
ORPHA:64 |
| Bartsocas-Papas Syndrome 1 |
|
Patent foramen ovale, Ectopic kidney, Microphthalmia, Micropenis, Flexion contracture, Arthrogryp... |
OMIM:263650 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Gingival overgrowth, Protruding tongue, Long philtrum |
OMIM:619179 |
| Sickle Cell Disease |
|
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly |
OMIM:603903 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Transposition of the great arteries, Patent ductus arteriosus, E... |
OMIM:313850 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Glossitis, Stomatitis, Cleft palate |
ORPHA:79284 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Microcephaly, Coarctation of aorta, Atrial septal defect, Optic disc p... |
OMIM:244450 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Pneumonia, Vascular ring, Abnormal heart morphology, Secondary microcephal... |
ORPHA:353281 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Restrictive Dermopathy |
|
Premature birth, Camptodactyly of finger, Small placenta, Large placenta, Short umbilical cord, D... |
ORPHA:1662 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Microcephaly, Phthisis bulbi, Microphthalmia |
OMIM:259770 |
| Pallister-Hall Syndrome |
|
Unilateral renal agenesis, Abnormal lung lobation, Atrioventricular canal defect, Umbilical herni... |
ORPHA:672 |
| Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Atrioventricular canal defect, Ventricular septal defect, Microcephaly, ... |
ORPHA:3047 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
| Oculodentodigital Dysplasia |
|
Optic atrophy, Camptodactyly of finger, Umbilical hernia, Ventricular septal defect, Arrhythmia, ... |
ORPHA:2710 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor |
OMIM:277400 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block |
ORPHA:228308 |
| Cardiospondylocarpofacial Syndrome |
|
Muscular ventricular septal defect, Horseshoe kidney, Vesicoureteral reflux, Congenital diaphragm... |
OMIM:157800 |
| Developmental And Epileptic Encephalopathy 100 |
|
Small hand, Elbow flexion contracture, Gingival overgrowth, Tented upper lip vermilion, Protrudin... |
OMIM:619777 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Microcephaly, Pulmonary valve atresia, Atri... |
OMIM:301030 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm, Bruising susceptibility, Mitral valve prolapse |
OMIM:166200 |
| Spondyloocular Syndrome |
|
Lymphedema, Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve |
OMIM:605822 |
| Neurofibromatosis-Noonan Syndrome |
|
Neurofibroma, Cryptorchidism, Plexiform neurofibroma, Lisch nodules, Optic nerve glioma, Neurobla... |
OMIM:601321 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Multicystic kidney dysplasia, Occipital encephalocele, Tetralog... |
OMIM:164210 |
| Occipital Horn Syndrome |
|
Hepatitis, Bruising susceptibility, Cholestasis, Venous insufficiency, Bladder diverticulum, Jaun... |
ORPHA:198 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microphthalmia, Microcephaly, Ethmocephaly, Single ventricle, Micropenis |
OMIM:236100 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in upper limbs, Joint contracture of the hand, Distal upper limb muscle ... |
ORPHA:466768 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation, Lymphedema |
OMIM:613089 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Protruding tongue, Hearing impairment |
OMIM:619580 |
| Codas Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Atrial septal defect, Ventricular septal defect |
OMIM:600373 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Bicuspid aortic valve, Chordee, Microphthalm... |
ORPHA:2152 |
| Specc1L-Related Hypertelorism Syndrome |
|
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defec... |
ORPHA:1519 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Tricuspid stenosis, Camptod... |
OMIM:143095 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... |
OMIM:123700 |
| Linear Nevus Sebaceus Syndrome |
|
Melanocytic nevus, Irregular hyperpigmentation, Microphthalmia |
ORPHA:2612 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Microcephaly, Microphthalmia |
OMIM:241410 |
| Osteogenesis Imperfecta |
|
Arterial dissection, Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Bruising susc... |
ORPHA:666 |
| Neuroocular Syndrome 1 |
|
Low-set ears, Ankyloglossia, Torus palatinus, Brushfield spots, Hyperextensibility of the finger ... |
OMIM:619539 |
| Hepatoerythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis |
ORPHA:95159 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Telangiectasia, Corneal neovascularization, Microphthalmia |
OMIM:278730 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue fasciculations, Difficulty in tongue movements, Sensorineural hearing impairment, Tongue a... |
ORPHA:99949 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic atrophy, Hypospadias, Dilated cardiomyopathy, Aortic root aneurysm, Optic disc coloboma, Ca... |
OMIM:607872 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Abnormal heart morphology... |
ORPHA:268261 |
| Amyotrophic Lateral Sclerosis |
|
Tongue atrophy, Xerostomia |
ORPHA:803 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Polyhydramnios, Aqueductal stenosis, P... |
ORPHA:3412 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defec... |
OMIM:607721 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankle flexion contracture, Interphalangeal joint contracture of finger, Hip contracture, Mitral v... |
OMIM:259600 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Congestive heart f... |
OMIM:619475 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Pyelonephritis, Torticollis, Varicose veins |
OMIM:314300 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Umbilical hernia, Diastasis recti, Ventricular septal defect, Biliary tract abn... |
OMIM:261540 |
| Mucopolysaccharidosis Type 3 |
|
Atrioventricular block, Pigmentary retinopathy, Reduced left ventricular ejection fraction, Splen... |
ORPHA:581 |
| Vater/Vacterl Association |
|
Hypospadias, Occipital encephalocele, Tetralogy of Fallot, Vesicoureteral reflux, Ureteropelvic j... |
OMIM:192350 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dilatation of the ventricular cavity, Polyhydramnios, Ventricular septal defect, Pulmonary artery... |
ORPHA:459070 |
| Stickler Syndrome |
|
Bifid uvula, Hearing impairment, Abnormal diaphysis morphology, Proximal femoral epiphysiolysis, ... |
ORPHA:828 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Micropenis, Hypospadias, Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Macroglossia, Enuresis, Mitral valve prolapse, Wolff-Parkinson-White syndrome |
ORPHA:369950 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Microphthalmia |
ORPHA:284160 |
| Doors Syndrome |
|
Polyhydramnios, Abnormal placental membrane morphology, Double outlet right ventricle, Thickened ... |
ORPHA:79500 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Decreased muscle mass, Rieger anomaly, Biliary tract abnormality, Ventricular s... |
OMIM:194190 |
| Mucoepithelial Dysplasia, Hereditary |
|
Furrowed tongue, Hearing impairment, Erythematous oral mucosa |
OMIM:158310 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Urethral atresia, Hydrocephalus, Microphthalmia, Asplenia, Perip... |
OMIM:273395 |
| Mosaic Trisomy 20 |
|
Horseshoe kidney, Dysplastic tricuspid valve, Abnormal mitral valve morphology, Ventricular septa... |
ORPHA:1724 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal hypoplasia, Oligohydramnios, Bilateral lung agenesis, Unilateral ren... |
ORPHA:49 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Redundant n... |
OMIM:216340 |
| Microphthalmia, Syndromic 6 |
|
Low-set ears, Bifid uvula, Toe syndactyly, Microglossia, Hearing impairment, Finger syndactyly, T... |
OMIM:607932 |
| Apert Syndrome |
|
Hydronephrosis, Overriding aorta, Hydrocephalus, Ventricular septal defect |
OMIM:101200 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Semilobar holoprosencephaly, Contracture of the proximal interphalangeal joint of the 3rd finger,... |
OMIM:301044 |
| Townes-Brocks Syndrome |
|
Hypospadias, Renal hypoplasia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Renal in... |
ORPHA:857 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Microphthalmia |
OMIM:614230 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Increased hepatic echogenicity, Optic disc coloboma, Microphthalmia |
OMIM:608940 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Ankle flexion contracture, Unilateral renal agenesis, Microphallus, Camptodactyly of finger, Bila... |
ORPHA:468631 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anomalous origin of left subclavian artery, Aspiration pneumonia, Abnormal heart morphology, Vesi... |
ORPHA:438213 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Pneumonia, Vascular ring, Abnormal heart morphology, Secondary microcephal... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Pneumonia, Vascular ring, Abnormal heart morphology, Secondary microcephal... |
ORPHA:353277 |
| Roberts Syndrome |
|
Long penis, Knee flexion contracture, Microcephaly, Wrist flexion contracture, Progressive flexio... |
ORPHA:3103 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Pulmonary artery aneurysm, Biventricular hypertrophy, Partial atrioventricular canal defect, Pate... |
OMIM:616462 |
| Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened PR interval, Cardio... |
ORPHA:365 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Tricuspid regurgitation, Abnormal left ventricle morphology, Patent foramen ovale, Ventricular se... |
ORPHA:466791 |
| Hajdu-Cheney Syndrome |
|
Umbilical hernia, Ventricular septal defect, Renal cyst, Hydrocephalus, Polycystic kidney dysplas... |
OMIM:102500 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... |
OMIM:618748 |
| Fraser Syndrome |
|
Anal stenosis, Toe syndactyly, Conductive hearing impairment, Atresia of the external auditory ca... |
ORPHA:2052 |
| Agel Amyloidosis |
|
Tongue atrophy, Xerostomia, Hearing impairment |
ORPHA:85448 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Oligohydramnios, Hypoplasia of th... |
OMIM:617666 |
| Larsen Syndrome |
|
Ventricular septal defect, Aortic aneurysm, Atrial septal defect, Spina bifida occulta, Pectus ex... |
OMIM:150250 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tetralogy of Fallot, Facial hypotonia, Ventricular septal defect, Small thenar eminence, Atrial s... |
OMIM:613458 |
| Congenital Erythropoietic Porphyria |
|
Abnormality of the amniotic fluid, Edema, Nonimmune hydrops fetalis |
ORPHA:79277 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Acute myelomonocytic leukemia, Cavernous hemangioma of the face, Multiple en... |
ORPHA:99646 |
| Generalized Pustular Psoriasis |
|
Cheilitis, Geographic tongue |
ORPHA:247353 |
| Focal Dermal Hypoplasia |
|
Optic atrophy, Umbilical hernia, Horseshoe kidney, Bifid ureter, Myelomeningocele, Aniridia, Dias... |
OMIM:305600 |
| Cornelia De Lange Syndrome 6 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Microcephaly, Ventricular septal defect |
OMIM:620568 |
| Ohdo Syndrome, X-Linked |
|
Cafe-au-lait spot, Microphthalmia |
OMIM:300895 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Atelectasis, Umbilical hernia, Renal insuffi... |
ORPHA:534 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Pectus excavatum, Microcephaly, Microphthalmia |
OMIM:156610 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:85167 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Stüve-Wiedemann Syndrome |
|
Abnormality of the dentition, Micromelia, Smooth tongue, Camptodactyly of finger, Elbow flexion c... |
ORPHA:3206 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Increased nuchal translucency, Renal insufficiency, Congenital diap... |
ORPHA:199 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Renal hypoplasia, Hydroureter, Optic disc coloboma, Anophthalmia, ... |
OMIM:309800 |
| Coffin-Siris Syndrome 1 |
|
Renal hypoplasia, Hydroureter, Umbilical hernia, Tetralogy of Fallot, Congenital diaphragmatic he... |
OMIM:135900 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly, Abnormality of retinal pigmentation, Congestive heart failure |
ORPHA:14 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic atrophy, Optic nerve compression, Ventricular septal defect, Phthisis bulbi, Optic neuropathy |
OMIM:619727 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Proteinuria, Microcephaly, Cerebral hemorrhage, Patent ductus arteriosus |
OMIM:616682 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Low-set ears, Short fifth metatarsal, Slender finger, Short finger, Recurrent otitis media, Widel... |
OMIM:619841 |
| Early Infantile Epileptic Encephalopathy |
|
Ureterocele, Umbilical hernia, Ventricular septal defect, Microcephaly, Micropenis |
ORPHA:1934 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Increased axial length of the globe, Right aortic arch, Ventricular septal defect, Microcephaly, ... |
ORPHA:513456 |
| Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Ureteropelvic junction obstruction, Ventricular septal defect, Hydro... |
OMIM:147920 |
| Aicardi Syndrome |
|
Optic atrophy, Optic disc coloboma, Microcephaly, Hepatoblastoma, Microphthalmia |
ORPHA:50 |
| Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti... |
OMIM:245150 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Microcephaly, Single ventricle, Microphtha... |
OMIM:157170 |
| Hutchinson-Gilford Progeria Syndrome |
|
Conductive hearing impairment, Dental crowding, High-frequency sensorineural hearing impairment, ... |
ORPHA:740 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Fle... |
OMIM:271640 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... |
OMIM:610655 |
| Monosomy 9P |
|
Ureteropelvic junction obstruction, Congenital diaphragmatic hernia, Microcephaly, Microphthalmia... |
ORPHA:261112 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Knee flexion contracture, Hip contracture, Ventricular septal defec... |
OMIM:606170 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Patent ductus arteriosus, Cephalohematoma, Atrial septal defect, Ventricular septal defect |
OMIM:620558 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia |
OMIM:612109 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Microcephaly, Hy... |
OMIM:610828 |
| Witteveen-Kolk Syndrome |
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Branchial fistula, Microphallus, Male urethral meatus stenosis, Congenital diaphragmatic hernia, ... |
OMIM:613406 |
| Varicose Veins |
|
Varicose veins |
OMIM:192200 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Microphthalmia |
OMIM:601707 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Muscular dystrophy, Pallor |
OMIM:253280 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Telangiectasia, Microphthalmia, Premature graying of hair |
OMIM:268400 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Recurrent pneumonia, Umbilical hernia, Recurrent bronchitis, Ventricular septal defect, Hydroneph... |
OMIM:620330 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Protruding tongue |
ORPHA:258 |
| Fanconi Anemia, Complementation Group L |
|
Cafe-au-lait spot, Microphthalmia |
OMIM:614083 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Microcephaly, Camptodactyly of finger |
ORPHA:1236 |
| Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Anophthalmia, Microcephaly, Hydrocephalus, Microphthalmia, Micropenis, ... |
OMIM:610829 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
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Congestive heart failure, Premature graying of hair, Splenomegaly, Cardiomegaly, Arrhythmia, Hype... |
OMIM:256040 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia |
ORPHA:97297 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Facial palsy, Skin ulcer, Cerebral edema |
ORPHA:68 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Facial paralysis, Dilation of Virchow-Robin spaces, Hypoplasia of the iris, Retinal arteriolar to... |
OMIM:175780 |
| Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
| Townes-Brocks Syndrome 1 |
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Multicystic kidney dysplasia, Renal hypoplasia, Umbilical hernia, Tetralogy of Fallot, Renal insu... |
OMIM:107480 |
| Treacher Collins Syndrome 1 |
|
Abnormal heart morphology, Bilateral microphthalmos |
OMIM:154500 |
| Omodysplasia 1 |
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Pulmonary artery stenosis, Umbilical hernia, Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Hypertrophic cardiomyopathy, Melanocytic nevus, Polyhydramnios, Splenomegaly, Card... |
ORPHA:116 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Enuresis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ventricular septal... |
OMIM:619522 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis |
ORPHA:93271 |
| Acrofrontofacionasal Dysostosis 1 |
|
Pectus excavatum, Optic atrophy, Microphthalmia |
OMIM:201180 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Ureterocele, Microcephaly, Microphthalmia, Pectus excavatum, Hypospadias |
OMIM:616734 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Joint contracture of the hand, Increased circulating lactate dehydrogenase concent... |
OMIM:309000 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:130650 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Umbilical hernia, Hypertrophic cardiomyo... |
OMIM:601803 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Carious teeth, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narrow mouth, Oral mucosal bl... |
ORPHA:79408 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Branchiooculofacial Syndrome |
|
Elbow flexion contracture, Ectopic thymus tissue, Branchial anomaly, Anophthalmia, Renal cyst, Mi... |
OMIM:113620 |
| Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus... |
OMIM:600145 |
| Glucagonoma |
|
Steatorrhea, Glossitis, Stomatitis, Intestinal obstruction |
ORPHA:97280 |
| Carpenter Syndrome 2 |
|
Situs inversus totalis, Knee flexion contracture, Cutis laxa, Transposition of the great arteries... |
OMIM:614976 |
| Traboulsi Syndrome |
|
Microphthalmia, Pectus excavatum, Homocystinuria |
OMIM:601552 |
| Norrie Disease |
|
Optic atrophy, Hypoplasia of the iris, Venous insufficiency, Microcephaly, Aplasia/Hypoplasia of ... |
ORPHA:649 |
| Glomuvenous Malformation |
|
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation |
ORPHA:83454 |
| Ulnar-Mammary Syndrome |
|
Elbow flexion contracture, Arrhythmia, Micropenis, Ventricular septal defect |
OMIM:181450 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia |
OMIM:127000 |
| Bilateral Perisylvian Polymicrogyria |
|
Protruding tongue, Hearing impairment |
ORPHA:98889 |
| Plague |
|
Inflammation of the large intestine, Hearing impairment, Chapped lip, Ileitis, Enterocolitis, Glo... |
ORPHA:707 |
| Microsporidiosis |
|
Glossitis |
ORPHA:2552 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| Monosomy 13Q14 |
|
Microcephaly, Holoprosencephaly, Microphthalmia |
ORPHA:1587 |
| Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos |
ORPHA:93325 |
| Choreoacanthocytosis |
|
Protruding tongue |
ORPHA:2388 |
