Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:618267 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
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 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Hyperkeratosis Lenticularis Perstans |
|
Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Schopf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
Xeroderma Pigmentosum Variant |
|
Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Epidermodysplasia Verruciformis, X-Linked |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:305350 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Nephrobla... |
ORPHA:158057 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... |
ORPHA:296 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma, Squamous cell carcinoma of the vulva, Anal canal squamous carcinoma, Ver... |
ORPHA:217390 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Xeroderma Pigmentosum, Complementation Group F |
|
Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of the skin, Seborrheic ... |
OMIM:278760 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
Epidermodysplasia Verruciformis |
|
Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Xeroderma Pigmentosum, Variant Type |
|
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma |
OMIM:278750 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... |
ORPHA:2591 |
Werner Syndrome |
|
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... |
ORPHA:902 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm |
ORPHA:69077 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of t... |
ORPHA:83469 |
Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Porokeratosis |
|
Squamous cell carcinoma of the skin |
ORPHA:79358 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Squamous cell carcinoma |
OMIM:243700 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Bazex Syndrome |
|
Lung adenocarcinoma, Neoplasm, Liposarcoma |
ORPHA:166113 |
Fanconi Anemia, Complementation Group P |
|
Squamous cell carcinoma |
OMIM:613951 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma |
ORPHA:662 |
Chromomycosis |
|
Squamous cell carcinoma, Multiple cutaneous malignancies |
ORPHA:182 |
Papillon-Lefèvre Syndrome |
|
Squamous cell carcinoma, Melanoma, Neoplasm of the skin |
ORPHA:678 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... |
OMIM:150800 |
Desmoid Tumor |
|
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma |
ORPHA:873 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Squamous cell carcinoma |
OMIM:226600 |
Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Xeroderma Pigmentosum, Complementation Group E |
|
Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma |
OMIM:278740 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma |
ORPHA:314478 |
Opsoclonus-Myoclonus Syndrome |
|
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... |
ORPHA:1183 |
Trichothiodystrophy 1, Photosensitive |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:601675 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Squamous cell carcinoma |
OMIM:148210 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma |
OMIM:618913 |
Xeroderma Pigmentosum, Complementation Group C |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Cutaneous melanoma |
OMIM:278720 |
Rothmund-Thomson Syndrome Type 1 |
|
Melanoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Osteosarcoma, Leukemia, ... |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
|
Melanoma, Lymphoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Osteosarcoma, ... |
ORPHA:221016 |
Rothmund-Thomson Syndrome |
|
Melanoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Leukemia, Neoplasm of th... |
ORPHA:2909 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Legius Syndrome |
|
Ovarian neoplasm, Acute monocytic leukemia, Desmoid tumors, Nephroblastoma, Multiple lipomas, Ves... |
ORPHA:137605 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
Oculocutaneous Albinism Type 1B |
|
Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma |
ORPHA:79434 |
Bloom Syndrome |
|
Squamous cell carcinoma, Azoospermia, Leukemia, Lymphoma |
OMIM:210900 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... |
OMIM:610755 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Mastocytosis |
|
Acute leukemia, Sarcoma, Chronic leukemia |
ORPHA:98292 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Testicular neoplasm, Sarcoma, Neoplasm of the breast, Neoplasm of the thyroid gland |
ORPHA:457059 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Tuberous Sclerosis 2 |
|
Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo... |
OMIM:613254 |
Xeroderma Pigmentosum, Complementation Group B |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Neoplasm, Cutaneous melanoma |
OMIM:610651 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Kid Syndrome |
|
Squamous cell carcinoma, Trichilemmoma, Neoplasm of the skin, Neoplasm of the tongue |
ORPHA:477 |
Rothmund-Thomson Syndrome, Type 2 |
|
Squamous cell carcinoma, Osteosarcoma, Basal cell carcinoma |
OMIM:268400 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Squamous cell carcinoma |
ORPHA:89842 |
Hereditary Acrokeratotic Poikiloderma |
|
Squamous cell carcinoma, Transitional cell carcinoma of the bladder |
ORPHA:2907 |
Trichothiodystrophy |
|
Squamous cell carcinoma |
ORPHA:33364 |
Oculocutaneous Albinism Type 1A |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma |
ORPHA:79431 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Histiocytoma, Osteosarcoma, Fibrosarcoma |
OMIM:112250 |
Dyskeratosis Congenita, X-Linked |
|
Hodgkin lymphoma, Squamous cell carcinoma, Myelodysplasia, Acute myeloid leukemia, Carcinoma |
OMIM:305000 |
Asbestos Intoxication |
|
Lung adenocarcinoma, Malignant mesothelioma |
ORPHA:2302 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... |
ORPHA:157794 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... |
ORPHA:636 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma |
OMIM:619750 |
Dyskeratosis Congenita, Digenic |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Melanoma |
OMIM:620040 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Kindler Epidermolysis Bullosa |
|
Squamous cell carcinoma, Neoplasm of the urethra |
ORPHA:2908 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... |
ORPHA:352540 |
Monosomy 22 |
|
Schwannoma, Sarcoma, Meningioma, Gonadal neoplasm |
ORPHA:96123 |
Cowden Syndrome |
|
Papilloma, Neoplasm, Lipoma, Breast carcinoma, Neoplasm of the central nervous system, Melanoma, ... |
ORPHA:201 |
Oculocutaneous Albinism |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Cutaneous melanoma |
ORPHA:55 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Melanoma |
ORPHA:220295 |
Adrenocortical Carcinoma |
|
Lung adenocarcinoma, Adrenocortical carcinoma |
ORPHA:1501 |
Congenital Erythropoietic Porphyria |
|
Squamous cell carcinoma, Neoplasm of the skin |
ORPHA:79277 |
Oculocutaneous Albinism Type 2 |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Cutaneous melanoma |
ORPHA:79432 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Pituitary null cell adenoma, Pituitary adenoma, P... |
ORPHA:276152 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Esophageal carcinoma |
ORPHA:391487 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:127550 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Squamous cell carcinoma |
ORPHA:79404 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Squamous cell carcinoma, Cutaneous melanoma |
ORPHA:79408 |
Cowden Syndrome 1 |
|
Breast carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Transitional cell carcinom... |
OMIM:158350 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Pulmonary carcinoid tumor, Papillary r... |
ORPHA:363618 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Fibroma, Tracheobronchial leiomyom... |
ORPHA:1018 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Lipoma, Thyroid carcinoma, Parathyroid adenoma, Nephroblastoma, Testicular neoplasm, Fibroma, Ren... |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Nephroblastoma, Testicular neoplasm, Fibroma, R... |
ORPHA:143 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Carcinoma, Laryngeal carcinoma |
OMIM:610644 |
Dermatomyositis |
|
Lung adenocarcinoma, Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma |
ORPHA:221 |
Hermansky-Pudlak Syndrome |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma |
ORPHA:79430 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Prostate cancer, Neuroendocrine ... |
ORPHA:99889 |
Tuberous Sclerosis Complex |
|
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... |
ORPHA:805 |
Aicardi Syndrome |
|
Lipoma, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Carcinoma |
OMIM:304050 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... |
ORPHA:652 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Squamous cell carcinoma of the skin |
ORPHA:79396 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
Fanconi Anemia, Complementation Group D2 |
|
Prolonged G2 phase of cell cycle |
OMIM:227646 |
Sotos Syndrome |
|
Neoplasm, Neuroblastoma, Hemangioma, Small cell lung carcinoma, Cholesteatoma, Sacrococcygeal ter... |
ORPHA:821 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu... |
ORPHA:363700 |