Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Tumor Predisposition Syndrome 4 |
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Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
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Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Lung Cancer |
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Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Colorectal Cancer, Susceptibility To, 12 |
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Carcinoma |
OMIM:615083 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Squamous Cell Carcinoma, Head And Neck |
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Squamous cell carcinoma |
OMIM:275355 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Enchondromatosis, Multiple, Ollier Type |
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Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Chondrosarcoma, Extraskeletal Myxoid |
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Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
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Squamous cell carcinoma |
OMIM:613736 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Multiple Enchondromatosis, Maffucci Type |
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Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Schöpf-Schulz-Passarge Syndrome |
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Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... |
ORPHA:50944 |
Undifferentiated Pleomorphic Sarcoma |
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Soft tissue sarcoma |
ORPHA:2023 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
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Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Desmoid Disease, Hereditary |
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Desmoid tumors, Breast carcinoma |
OMIM:135290 |
Xeroderma Pigmentosum Variant |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Schopf-Schulz-Passarge Syndrome |
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Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h... |
OMIM:224750 |
Acquired Ichthyosis |
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Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Bazex Syndrome |
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Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Junctional Epidermolysis Bullosa Inversa |
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Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ... |
ORPHA:217390 |
Progressive Osseous Heteroplasia |
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Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Maffucci Syndrome |
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Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... |
ORPHA:158057 |
Late-Onset Junctional Epidermolysis Bullosa |
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Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79406 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Mast Cell Sarcoma |
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Hepatomegaly, Sarcoma |
ORPHA:66661 |
Liposarcoma |
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Sarcoma |
ORPHA:69078 |
Self-Improving Dystrophic Epidermolysis Bullosa |
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Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79411 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Epidermodysplasia Verruciformis |
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Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Punctate Palmoplantar Keratoderma Type 1 |
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Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... |
OMIM:278760 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Tumor Predisposition Syndrome 2 |
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Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Cutaneous Neuroendocrine Carcinoma |
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Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
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Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Breast carcinoma, Nail dystrophy, ... |
OMIM:614564 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Glioma susceptibility 9 |
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Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Carcinoma, Nail dystrophy, Squamous cell carcinoma |
OMIM:615225 |
Cowden Syndrome 7 |
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Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... |
OMIM:616858 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Xeroderma Pigmentosum, Variant Type |
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Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... |
ORPHA:2591 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... |
ORPHA:83469 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin, Nail dystrophy |
OMIM:181600 |
Exostoses, Multiple, Type Ii |
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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 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79409 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Werner Syndrome |
|
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... |
ORPHA:902 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Yellow nails, Bronchiec... |
ORPHA:662 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Bronchiectasis, Squamous cell carcinoma,... |
OMIM:243700 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79410 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Liver abscess, Squamous cell carcinoma, Melanoma, Nail dystroph... |
ORPHA:678 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Hypertrich... |
ORPHA:1501 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Portal hypertension, Cryptorchidism, Premature graying of hair, Squamous cell car... |
OMIM:620365 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Abnormality of the ovary... |
ORPHA:314478 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Squamous cell carcinoma |
OMIM:613951 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Squamous cell carcinoma |
OMIM:226600 |
Chromomycosis |
|
Abnormal lung morphology, Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Squamous cell carcinoma, Nail dy... |
OMIM:148210 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Squamous cell carcinoma, Fine hair, Basal cell carcinoma, Nail dystr... |
OMIM:601675 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th... |
ORPHA:79434 |
Xeroderma Pigmentosum, Complementation Group C |
|
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
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 |
|
Nail dystrophy, Laryngeal carcinoma, Decreased testicular size, Carcinoma |
OMIM:610644 |
Bloom Syndrome |
|
Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Squamous ... |
OMIM:210900 |
Dermatomyositis |
|
Abnormal hair quantity, Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma... |
ORPHA:221 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... |
ORPHA:221008 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Myelodysplasia, Sparse eyebrow, Squamous cell carcinoma, Mela... |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Sparse or ab... |
ORPHA:221016 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... |
OMIM:268400 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Cowden Syndrome 1 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... |
OMIM:158350 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Alopecia, Sparse eyelashes, Myelod... |
OMIM:305000 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Desmoid tumors, Adenocarcinoma of the colon |
ORPHA:247798 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Squamous cell carcinoma, Trichilemm... |
ORPHA:477 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Recurrent pneumonia, Hypertrichosis, Hepatosplenomegaly |
OMIM:619750 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ... |
OMIM:620040 |
Hereditary Acrokeratotic Poikiloderma |
|
Squamous cell carcinoma, Nail dystrophy, Dystrophic fingernails, Dystrophic toenail, Transitional... |
ORPHA:2907 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Squamous cell carcinoma |
ORPHA:89842 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Synophrys, Hepatosplenomegaly, Gonadal neoplasm, Sparse hair, ... |
ORPHA:96123 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Trichothiodystrophy |
|
Sparse scalp hair, Brittle hair, Recurrent bronchopulmonary infections, Cryptorchidism, Squamous ... |
ORPHA:33364 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam... |
ORPHA:79432 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Prem... |
ORPHA:363618 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Myelodysplasia, Hepatic necrosis, Premature graying of hair, Interstitial pneumonitis, ... |
OMIM:127550 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipom... |
ORPHA:636 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Distichiasis, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Kindler Epidermolysis Bullosa |
|
Neoplasm of the urethra, Squamous cell carcinoma |
ORPHA:2908 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Recurrent upper respiratory tract in... |
ORPHA:391487 |
Congenital Erythropoietic Porphyria |
|
Scarring alopecia of scalp, Loss of eyelashes, Squamous cell carcinoma, Neoplasm of the skin, Fac... |
ORPHA:79277 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... |
ORPHA:1018 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... |
ORPHA:201 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Pneumonia, Pneumothorax, Squamous cell carcinoma, Nail dystrophy |
ORPHA:79404 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79408 |
Aicardi Syndrome |
|
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... |
OMIM:304050 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Basal cell carcinoma, Long eyelashes, Squamous cell carcinoma of the sk... |
ORPHA:79430 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary c... |
ORPHA:99889 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Squamous cell carcinoma of the skin, Nail dystrophy |
ORPHA:79396 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Sparse anterior ... |
ORPHA:821 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |