Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:180295 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Premature Aging Syndrome, Okamoto Type |
|
Neoplasm, Osteosarcoma |
OMIM:601811 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri... |
OMIM:135150 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Myopath... |
OMIM:112250 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Cryptorchidism, Renal transitional cell carcinoma, Basal cell carcinoma, Pheoch... |
ORPHA:2874 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Epidermal Nevus Syndrome |
|
Lipoma, Weakness of long finger extensor muscles, Spinal cord tumor, Rhabdomyosarcoma |
ORPHA:35125 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma |
ORPHA:66661 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Colorectal Cancer |
|
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder |
OMIM:114500 |
Werner Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:277700 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... |
ORPHA:83469 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Cheilitis Glandularis |
|
Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Skeletal muscle atrophy, Gl... |
ORPHA:647 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... |
ORPHA:662 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion |
ORPHA:314478 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Nijmegen Breakage Syndrome |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Medulloblastoma, Bronchiectasis, Recurrent pneumonia, Recurre... |
OMIM:251260 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Melanoma, Basal cell carcino... |
ORPHA:221008 |
Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Abnormal lung lobation, Acute lymphoblastic l... |
ORPHA:1052 |
Diamond-Blackfan Anemia 21 |
|
Osteosarcoma |
OMIM:620072 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Melanoma, Basal ce... |
ORPHA:221016 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Baller-Gerold Syndrome |
|
Lymphoma, Osteosarcoma |
ORPHA:1225 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Osteochondroma, Hip contracture, B-cell lymphoma, Ankle flexion contracture, Burkitt lymphoma, Kn... |
OMIM:620232 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cryptorchidism, Nephroblastoma, Embryonal rhabdomyosarcoma, Leukemia |
OMIM:257300 |
Terminal Osseous Dysplasia |
|
Camptodactyly of toe, Fibroma, Multiple joint contractures, Camptodactyly of finger |
OMIM:300244 |
Fibrous Dysplasia Of Bone |
|
Testicular neoplasm, Cutaneous myxoma, Thyroid carcinoma, Neoplasm of the breast, Osteosarcoma |
ORPHA:249 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Aicardi Syndrome |
|
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... |
OMIM:304050 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Basal cell carcinoma, Osteosarcoma, Squamous cell carcinoma |
OMIM:268400 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Werner Syndrome |
|
Renal neoplasm, Skeletal muscle atrophy, Acral lentiginous melanoma, Pulmonary artery stenosis, B... |
ORPHA:902 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Squamous cell carcinoma |
OMIM:615225 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Diastasis recti,... |
ORPHA:116 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... |
ORPHA:158057 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Recurrent pneumonia, Hepatosplenomegaly |
OMIM:619750 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Myelodysplasia, Adenocarcinoma of the colon, Malignant genitourinary trac... |
ORPHA:124 |
Atypical Werner Syndrome |
|
Abnormality of the Achilles tendon, Renal neoplasm, Hepatic steatosis, Skeletal muscle atrophy, A... |
ORPHA:79474 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Cowden Syndrome 1 |
|
Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Hydrocele testi... |
OMIM:158350 |
Dermatomyositis |
|
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... |
ORPHA:221 |
Costello Syndrome |
|
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Bladder carcinoma, Macroglossia, Ves... |
OMIM:218040 |
Diamond-Blackfan Anemia 1 |
|
Small thenar eminence, Basal cell carcinoma, Myelodysplasia, Osteosarcoma |
OMIM:105650 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Decreased testicular size, Carcinoma |
OMIM:610644 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ... |
ORPHA:217390 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Junctional Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma, Flexion contracture |
ORPHA:357154 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79406 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell c... |
OMIM:278760 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79411 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Desmoid tumors, Adenocarcinoma of the colon |
ORPHA:247798 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... |
ORPHA:1018 |
Cowden Syndrome |
|
Endometrial carcinoma, Macroglossia, Follicular thyroid carcinoma, Cavernous hemangioma, Breast c... |
ORPHA:201 |
Monosomy 22 |
|
Schwannoma, Hepatosplenomegaly, Contractures of the large joints, Gonadal neoplasm, Meningioma, S... |
ORPHA:96123 |
Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma, Camptodactyly of toe, Camptodactyly |
OMIM:610474 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib... |
ORPHA:276152 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... |
ORPHA:636 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut... |
ORPHA:99880 |
Czech Dysplasia |
|
Osteochondroma, Flexion contracture |
OMIM:609162 |
Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Uterine leiomyoma, Thyr... |
ORPHA:143 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Bronchiectasis, Squamous cell carcinoma,... |
OMIM:243700 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79409 |
Cowden Syndrome 6 |
|
Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Hydrocele testis, Meningio... |
OMIM:615109 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Ho... |
OMIM:305000 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79410 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... |
ORPHA:157794 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Diastasis recti, Cardiac rhabdomyoma |
OMIM:618971 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
Multiple Osteochondromas |
|
Osteochondroma, Chondrosarcoma, Pneumothorax, Rib exostoses, Scapular exostoses, Hemothorax |
ORPHA:321 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Squamous cell carcinoma |
OMIM:613951 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Liver abscess, Squamous cell carcinoma, Melanoma, Neoplasm of t... |
ORPHA:678 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... |
ORPHA:99889 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Flexion contracture, Squamous cell carcinoma |
OMIM:226600 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnor... |
ORPHA:252164 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Hip contracture, Astrocytoma, Ankle flexion contracture, Small cell lung... |
ORPHA:821 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteochondroma, Recurrent respiratory infections, Scapular winging, Bilateral cryptorchidism, Rec... |
OMIM:150230 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Knee flexion contracture, Elbow flexion contracture, Squamous cell carcinoma |
OMIM:148210 |
Bloom Syndrome |
|
Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Squamous ... |
OMIM:210900 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Leukemia, Flexion contracture, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Pallister-Hall Syndrome |
|
Osteochondroma, Midline facial capillary hemangioma, Cryptorchidism, Abnormal lung lobation, Dist... |
ORPHA:672 |
Prostate Cancer |
|
Prostate cancer |
OMIM:176807 |