Huriez Syndrome |
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Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin, Nail dystrophy |
OMIM:181600 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
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Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
Cutaneous Neuroendocrine Carcinoma |
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Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
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Myelodysplasia, Thrombocytopenia, Premature graying of hair, Squamous cell carcinoma of the skin,... |
OMIM:620365 |
Oculocutaneous Albinism Type 1A |
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Hypopigmentation of hair, Albinism, Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma... |
ORPHA:79431 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
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Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Pilomatrixoma, Embryonal rhabdomyosarcoma, Hyperkeratosis, Multiple enchondromatosis, Adenocarcin... |
OMIM:620189 |
Familial Multinodular Goiter |
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Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Alopecia, Aplastic anemia, Myelodysplasia, Thrombocytopenia, Premature graying of hair, Leukopeni... |
OMIM:127550 |
Gardner Syndrome |
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Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Pilomatrixoma |
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Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Oculocutaneous Albinism Type 1B |
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Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th... |
ORPHA:79434 |
Turcot Syndrome With Polyposis |
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Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Dyskeratosis Congenita, Digenic |
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Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ... |
OMIM:620040 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Hyperkeratosis, Basal cell carcinoma, Squamous cell carcinoma of the sk... |
ORPHA:79430 |
Xeroderma Pigmentosum, Complementation Group E |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Pilomatrixoma |
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Pilomatrixoma |
OMIM:132600 |
Xeroderma Pigmentosum, Complementation Group C |
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Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
Oculocutaneous Albinism Type 2 |
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Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam... |
ORPHA:79432 |
Xeroderma Pigmentosum, Complementation Group B |
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Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Alopecia, Palmoplantar keratoderma, Squamous cell carcinoma of the skin, Nail dystrophy, Anemia |
ORPHA:79396 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Papillary... |
ORPHA:363618 |
Xeroderma Pigmentosum, Complementation Group A |
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Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Pilomatrixoma, Neoplasm, Spinal cord tumor, Meningioma |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Pilomatrixoma, Trichiasis, Meningioma, Highly arched eyebrow |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Pilomatrixoma, Trichiasis, Meningioma, Highly arched eyebrow |
ORPHA:353277 |
Tetrasomy 9P |
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Pilomatrixoma |
ORPHA:3310 |