Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
Li-Fraumeni Syndrome 2 |
|
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma |
OMIM:609265 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma, Verrucae |
OMIM:618267 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Tumor Predisposition Syndrome 1 |
|
Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu... |
OMIM:614327 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Enchondromatosis, Multiple, Ollier Type |
|
Multiple enchondromatosis, Hemangioma, Chondrosarcoma |
OMIM:166000 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
Lung Cancer |
|
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Hyperkeratosis Lenticularis Perstans |
|
Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Desmoid Disease, Hereditary |
|
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors |
OMIM:135290 |
Schopf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Poroma, Apocrine hidrocystoma, Basal cell carcinoma |
OMIM:224750 |
Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Hemangioma, Chondrosarcoma |
OMIM:614569 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam... |
ORPHA:454840 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:90342 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
Acquired Ichthyosis |
|
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm |
ORPHA:454 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Nephroblastoma, Acute myeloid leukemia, Burkitt lymphoma, Prostate cancer, Neoplasm of the lung, ... |
ORPHA:158057 |
Junctional Epidermolysis Bullosa Inversa |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79405 |
Maffucci Syndrome |
|
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... |
ORPHA:163634 |
Ollier Disease |
|
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Neoplasm, ... |
ORPHA:296 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma, Anal canal squamous carcinoma, Squamous cell carcinoma of the vulva, Ver... |
ORPHA:217390 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79406 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... |
OMIM:278760 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79411 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Carcinoma, Unilateral vestibular schwannoma |
OMIM:603641 |
Epidermodysplasia Verruciformis |
|
Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Cutaneous Neuroendocrine Carcinoma |
|
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... |
ORPHA:79140 |
Large Congenital Melanocytic Nevus |
|
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma |
ORPHA:626 |
Xeroderma Pigmentosum, Variant Type |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
OMIM:278750 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
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 Carcinoma, Multiple Self-Healing |
|
Carcinoma, Squamous cell carcinoma |
OMIM:615225 |
Infantile Myofibromatosis |
|
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... |
ORPHA:2591 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Breast carcinoma, Actinic keratosis, Oropharyngeal squamous cell carcinoma |
OMIM:614564 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... |
ORPHA:247806 |
Werner Syndrome |
|
Breast carcinoma, Ovarian neoplasm, Thyroid carcinoma, Sarcoma, Squamous cell carcinoma, Gastroin... |
ORPHA:902 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79409 |
Rhabdoid Tumor |
|
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system |
ORPHA:69077 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses |
OMIM:133700 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... |
ORPHA:220460 |
Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Test... |
ORPHA:83469 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79410 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... |
ORPHA:79665 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
Porokeratosis |
|
Squamous cell carcinoma of the skin |
ORPHA:79358 |
Familial Adenomatous Polyposis 1 |
|
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... |
OMIM:175100 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
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 |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,... |
ORPHA:44890 |
Yellow Nail Syndrome |
|
Sarcoma, Biliary tract neoplasm, Renal neoplasm, Neoplasm, Neoplasm of the lung |
ORPHA:662 |
Fanconi Anemia, Complementation Group P |
|
Squamous cell carcinoma |
OMIM:613951 |
Chromomycosis |
|
Squamous cell carcinoma, Multiple cutaneous malignancies |
ORPHA:182 |
Desmoid Tumor |
|
Fibroma, Desmoid tumors, Neoplasm of the skin, Intestinal polyposis |
ORPHA:873 |
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 leiomyosar... |
OMIM:150800 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia |
OMIM:180200 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Squamous cell carcinoma |
OMIM:226600 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Ovarian fibroma, Diffuse leiomyomatosis |
ORPHA:314478 |
Opsoclonus-Myoclonus Syndrome |
|
Breast carcinoma, Melanoma, Small cell lung carcinoma, Neoplasm, Ovarian teratoma, Neuroblastoma,... |
ORPHA:1183 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... |
ORPHA:247798 |
Familial Adenomatous Polyposis |
|
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... |
ORPHA:733 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Squamous cell carcinoma |
OMIM:148210 |
Xeroderma Pigmentosum, Complementation Group C |
|
Cutaneous melanoma, Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278720 |
Trichothiodystrophy 1, Photosensitive |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:601675 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma |
OMIM:618913 |
Rothmund-Thomson Syndrome Type 1 |
|
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Os... |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
|
Lymphoma, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of th... |
ORPHA:221016 |
Rothmund-Thomson Syndrome |
|
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... |
ORPHA:2909 |
Bloom Syndrome |
|
Lymphoma, Squamous cell carcinoma, Azoospermia, Leukemia |
OMIM:210900 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Cancer-Associated Retinopathy |
|
Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Uterine neoplasm, Neoplasm of the pancreas, ... |
ORPHA:71505 |
Multiple Endocrine Neoplasia, Type Iv |
|
Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcino... |
OMIM:610755 |
Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
Legius Syndrome |
|
Nephroblastoma, Multiple lipomas, Ovarian neoplasm, Neoplasm of the central nervous system, Neuro... |
ORPHA:137605 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Testicular neoplasm, Sarcoma, Neoplasm of the thyroid gland, Neoplasm of the breast |
ORPHA:457059 |
Mastocytosis |
|
Sarcoma, Acute leukemia, Chronic leukemia |
ORPHA:98292 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Tuberous Sclerosis 2 |
|
Astrocytoma, Chordoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Adenoma sebaceum, Retinal hamar... |
OMIM:613254 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... |
ORPHA:790 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous melanoma, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin |
OMIM:610651 |
Kid Syndrome |
|
Squamous cell carcinoma, Neoplasm of the tongue, Trichilemmoma, Neoplasm of the skin |
ORPHA:477 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Rothmund-Thomson Syndrome, Type 2 |
|
Osteosarcoma, Squamous cell carcinoma, Basal cell carcinoma |
OMIM:268400 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Squamous cell carc... |
OMIM:305000 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Squamous cell carcinoma |
ORPHA:89842 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteosarcoma, Histiocytoma, Fibrosarcoma |
OMIM:112250 |
Hereditary Acrokeratotic Poikiloderma |
|
Squamous cell carcinoma, Transitional cell carcinoma of the bladder |
ORPHA:2907 |
Trichothiodystrophy |
|
Squamous cell carcinoma |
ORPHA:33364 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Asbestos Intoxication |
|
Malignant mesothelioma, Lung adenocarcinoma |
ORPHA:2302 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Thyroid... |
ORPHA:157794 |
Neurofibromatosis Type 1 |
|
Spinal neurofibromas, Multiple lipomas, Astrocytoma, Urinary tract neoplasm, Neoplasm of the gast... |
ORPHA:636 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma |
OMIM:619750 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Dyskeratosis Congenita, Digenic |
|
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin |
OMIM:620040 |
Oncogenic Osteomalacia |
|
Neurofibromas, Neoplasm of head and neck, Giant cell tumor of bone, Carcinoma, Osteosarcoma, Neop... |
ORPHA:352540 |
Monosomy 22 |
|
Meningioma, Sarcoma, Gonadal neoplasm, Schwannoma |
ORPHA:96123 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Kindler Epidermolysis Bullosa |
|
Neoplasm of the urethra, Squamous cell carcinoma |
ORPHA:2908 |
Cowden Syndrome |
|
Fibroma, Papilloma, Breast carcinoma, Colorectal polyposis, Neoplasm of the central nervous syste... |
ORPHA:201 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Renal angiomyolipoma, Angiofi... |
ORPHA:276152 |
Oculocutaneous Albinism |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:55 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin |
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 |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79432 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Oropharyngeal squamous cell carcinoma |
ORPHA:391487 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:79408 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Squamous cell carcinoma |
ORPHA:79404 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Fibroma, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Esophageal neoplasm, Vaginal ne... |
ORPHA:1018 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Parathyroid adenoma, Thyroid carcinoma, Renal... |
ORPHA:99880 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Pulmonary carcinoid tumor, Basal cell carcinoma, Squamous cell carcinoma of the skin, Papillary r... |
ORPHA:363618 |
Parathyroid Carcinoma |
|
Fibroma, Nephroblastoma, Pancreatic adenocarcinoma, Thyroid carcinoma, Renal hamartoma, Lipoma, T... |
ORPHA:143 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:127550 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Carcinoma, Laryngeal carcinoma |
OMIM:610644 |
Dermatomyositis |
|
Lymphoma, Breast carcinoma, Lung adenocarcinoma, Neoplasm, Gastrointestinal stroma tumor |
ORPHA:221 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Malignant gastrointestinal tract tumors, Pituitary corticotropic cell ... |
ORPHA:99889 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79430 |
Tuberous Sclerosis Complex |
|
Parathyroid adenoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Pancreatic endocrine tumor, Retin... |
ORPHA:805 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Ependymoma, Neoplasm of... |
ORPHA:652 |
Aicardi Syndrome |
|
Hemangioma, Carcinoma, Teratoma, Hepatoblastoma, Lipoma, Metastatic angiosarcoma |
OMIM:304050 |
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 |
|
Astrocytoma, Acute lymphoblastic leukemia, Cholesteatoma, Small cell lung carcinoma, Hemangioma, ... |
ORPHA:821 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Spinal neurofibromas, Ossifying fibroma, Schwannoma, Hemangioma, Subcutaneous neurofibromas, Neur... |
ORPHA:363700 |