Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
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 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Myofibromatosis, Infantile, 1 |
|
Myofibromatosis, Fibroma |
OMIM:228550 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Lung Cancer |
|
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma, Verrucae |
OMIM:618267 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
Acquired Ichthyosis |
|
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma |
ORPHA:454 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Bazex Syndrome |
|
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology |
ORPHA:1221 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Maffucci Syndrome |
|
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... |
ORPHA:163634 |
Dermatofibrosarcoma Protuberans |
|
Neoplasm of the skin, Fibrosarcoma |
ORPHA:31112 |
Progressive Osseous Heteroplasia |
|
Sarcoma, Abnormality of the parathyroid gland |
ORPHA:2762 |
Ollier Disease |
|
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma |
ORPHA:296 |
Familial Adenomatous Polyposis 3 |
|
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... |
OMIM:616415 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... |
ORPHA:454840 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... |
OMIM:158320 |
Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
Infantile Myofibromatosis |
|
Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In... |
ORPHA:2591 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan... |
ORPHA:2302 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma |
ORPHA:66661 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Large Congenital Melanocytic Nevus |
|
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Generalized hirsutism, Sarcoma, Rhabdomyosarcoma |
ORPHA:626 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Elevated circulati... |
OMIM:610755 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Testicular neoplasm, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Ne... |
ORPHA:83469 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Squamous cell carcinoma, Aplasia/Hypoplasia of the eyebrow, Basal cell car... |
ORPHA:50944 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Cowden Syndrome 7 |
|
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap... |
OMIM:616858 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... |
ORPHA:247806 |
Yellow Nail Syndrome |
|
Biliary tract neoplasm, Yellow nails, Recurrent respiratory infections, Neoplasm, Renal neoplasm,... |
ORPHA:662 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Rhabdoid Tumor |
|
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system |
ORPHA:69077 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... |
OMIM:276300 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... |
ORPHA:145 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... |
ORPHA:44890 |
Exostoses, Multiple, Type Ii |
|
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma |
OMIM:133700 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Nail dys... |
ORPHA:79501 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... |
ORPHA:447877 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
Werner Syndrome |
|
Neoplasm of the oral cavity, Premature graying of hair, White forelock, Melanoma, Renal neoplasm,... |
ORPHA:902 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Nail dystrophy, Carcinoma |
OMIM:615225 |
Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Neurofibroma, Intestinal obstruction |
OMIM:606764 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Hypertrich... |
ORPHA:1501 |
Legius Syndrome |
|
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... |
ORPHA:220460 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Xeroderma Pigmentosum Variant |
|
Basal cell carcinoma, Melanoma, Squamous cell carcinoma |
ORPHA:90342 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Desmoid Tumor |
|
Neoplasm of the skin, Intestinal polyposis, Intestinal obstruction, Fibroma, Desmoid tumors |
ORPHA:873 |
Hereditary Mixed Polyposis Syndrome |
|
Intussusception, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid c... |
ORPHA:157794 |
Ovarian Fibrothecoma |
|
Abnormality of the ovary, Pleural effusion, Diffuse leiomyomatosis, Hirsutism, Ovarian fibroma, F... |
ORPHA:314478 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... |
ORPHA:247798 |
Opsoclonus-Myoclonus Syndrome |
|
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... |
ORPHA:1183 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Basal Cell Nevus Syndrome 2 |
|
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma |
OMIM:620343 |
Oncogenic Osteomalacia |
|
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... |
ORPHA:352540 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Apocrine hidrocystoma, Sparse body hair, Nail dystrophy, Squamous cell carcinoma, Basal c... |
OMIM:224750 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Colon cancer, Hepatospl... |
ORPHA:158057 |
Cowden Syndrome 1 |
|
Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Meningioma, Goiter, Fibroadenoma of th... |
OMIM:158350 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... |
OMIM:115310 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... |
ORPHA:733 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Cancer-Associated Retinopathy |
|
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... |
ORPHA:71505 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Verrucae, Squamous cell carcinoma of the vulva, Recurrent sinusitis, Squamous cell car... |
ORPHA:217390 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Decreased testicular size, Nail dystrophy, Laryngeal carcinoma, Carcinoma |
OMIM:610644 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Squamous cell carcinoma, Scarring alopecia of... |
OMIM:602540 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Lynch Syndrome 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... |
OMIM:614350 |
Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Cleft palate, Osteosarcoma |
OMIM:180200 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction |
ORPHA:97286 |
Milroy Disease |
|
Neoplasm of the skin, Hydrocele testis, Angiosarcoma |
ORPHA:79452 |
Progressive Supranuclear Palsy |
|
Memory impairment, Depression, Emotional lability, Irritability, Cognitive impairment, Dementia, ... |
ORPHA:683 |
Terminal Osseous Dysplasia |
|
Cleft palate, Fibroma |
OMIM:300244 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... |
ORPHA:276399 |
Epidermodysplasia Verruciformis |
|
Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Yellow nails, Sparse lateral eyebrow, Actinic keratosis, Nail dystrophy, Oropharyngeal ... |
OMIM:614564 |
Dermatomyositis |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Lymphoma, Neoplasm, Lung adeno... |
ORPHA:221 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Hypertrichosis, Hepatosplenomegaly, Fibroma, High palate |
OMIM:619750 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Fibrosarcoma, Osteosarcoma, Histiocytoma |
OMIM:112250 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia |
ORPHA:43393 |
Tuberous Sclerosis 2 |
|
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... |
OMIM:613254 |
Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Plexiform neurofibroma... |
ORPHA:636 |
Retinoblastoma |
|
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... |
ORPHA:790 |
Xeroderma Pigmentosum, Complementation Group F |
|
Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, Seborrheic ... |
OMIM:278760 |
Monosomy 22 |
|
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, High palate,... |
ORPHA:96123 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... |
OMIM:620189 |
Pleuropulmonary Blastoma |
|
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma |
OMIM:601200 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Squamous cell carcinoma |
OMIM:618373 |
Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Squamous cell car... |
ORPHA:60032 |
Lymphedema-Distichiasis Syndrome |
|
Abnormality of the pulmonary vasculature, Distichiasis, Fibrosarcoma, Patent ductus arteriosus, C... |
ORPHA:33001 |
Carney Triad |
|
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paragang... |
ORPHA:139411 |
Juvenile Polyposis Syndrome |
|
Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the stomach, Recta... |
OMIM:174900 |
Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma |
OMIM:278750 |
Dyskeratosis Congenita, X-Linked |
|
Alopecia, Oral leukoplakia, Premature graying of hair, Esophageal stricture, Decreased testicular... |
OMIM:305000 |
Cowden Syndrome |
|
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... |
ORPHA:201 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Uterine neoplasm, Aspiration pneumonia, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm... |
ORPHA:1018 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Renal angiomyolipoma,... |
ORPHA:276152 |
Common Variable Immunodeficiency |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphoma, Recurrent respirato... |
ORPHA:1572 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... |
ORPHA:1359 |
Meige Disease |
|
Pleural effusion, Angiosarcoma |
ORPHA:90186 |
Aicardi Syndrome |
|
Recurrent pneumonia, Sparse lateral eyebrow, Metastatic angiosarcoma, Teratoma, Hiatus hernia, He... |
OMIM:304050 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Confusion, Myeloproliferative disorder, Delirium, Res... |
ORPHA:100924 |
Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... |
ORPHA:99818 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Esophageal stricture, Nail dystrophy, Abnormal esophagus morphology, Squamous cell carc... |
OMIM:226600 |
Neuroendocrine Neoplasm Of Appendix |
|
Adenocarcinoma of the colon, Elevated circulating hepatic transaminase concentration, Appendiceal... |
ORPHA:100079 |
Papillon-Lefèvre Syndrome |
|
Neoplasm of the skin, Sparse body hair, Hypertrichosis, Nail dystrophy, Generalized hirsutism, Me... |
ORPHA:678 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroi... |
ORPHA:99880 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... |
ORPHA:424016 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Parathyroid Carcinoma |
|
Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathy... |
ORPHA:143 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne... |
ORPHA:99889 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Trichiasis, Sparse eyebrow, Oral leukoplakia, Furrowed tongue, Nail dystrophy, Sparse eyelashes, ... |
OMIM:148210 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent pneumonia, Recurrent sinusitis, Sclerosing cholangitis, Eosinophilic infiltration of th... |
OMIM:243700 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... |
ORPHA:805 |
Fanconi Anemia, Complementation Group P |
|
Squamous cell carcinoma, Cryptorchidism |
OMIM:613951 |
Trichothiodystrophy 1, Photosensitive |
|
Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Intestinal obstruction, Tric... |
OMIM:601675 |
Chromomycosis |
|
Multiple cutaneous malignancies, Squamous cell carcinoma, Abnormal lung morphology |
ORPHA:182 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... |
ORPHA:652 |
Fanconi Anemia, Complementation Group E |
|
Leukemia, Prolonged G2 phase of cell cycle, Cryptorchidism |
OMIM:600901 |
Sotos Syndrome |
|
Small cell lung carcinoma, Hydrocele testis, Sparse anterior scalp hair, Neoplasm, Cryptorchidism... |
ORPHA:821 |
Fanconi Anemia, Complementation Group A |
|
Leukemia, Prolonged G2 phase of cell cycle, Cryptorchidism |
OMIM:227650 |
Bloom Syndrome |
|
Recurrent upper respiratory tract infections, Lymphoma, Hypertrichosis, Hepatic steatosis, Crypto... |
OMIM:210900 |
17Q11 Microdeletion Syndrome |
|
Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro... |
ORPHA:97685 |
Rothmund-Thomson Syndrome, Type 2 |
|
Alopecia, Sparse eyebrow, Annular pancreas, Anteriorly placed anus, Premature graying of hair, Cr... |
OMIM:268400 |
Fanconi Anemia, Complementation Group C |
|
Leukemia, Prolonged G2 phase of cell cycle, Cryptorchidism |
OMIM:227645 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Cryptorchidism, Prolonged G2 phase of cell cycle, Tracheoesophageal fistula, Es... |
OMIM:227646 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Rothmund-Thomson Syndrome Type 2 |
|
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Alopecia totalis, Sparse or ab... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Alopecia totalis, Sparse or absent eyela... |
ORPHA:221008 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... |
ORPHA:171 |
Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Esophagitis, Neoplasm of the urethra, Squamous cell carcinom... |
ORPHA:2908 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, High palate, Spinal... |
ORPHA:363700 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Pituitary adenoma, Emotional lability |
OMIM:219090 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Meningioma, Neoplasm, Emotional lability... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Meningioma, Emotional lability, Pilomatr... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Meningioma, Emotional lability, Pilomatr... |
ORPHA:353277 |