Melanoma-Pancreatic Cancer Syndrome |
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Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Lichen Sclerosus Et Atrophicus |
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Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Anencephaly 1 |
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Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
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Spina bifida, Anencephaly |
OMIM:301410 |
Congenital Herpes Simplex Virus Infection |
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Microcephaly, Hydranencephaly |
ORPHA:293 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
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Squamous cell carcinoma, Basal cell carcinoma |
OMIM:618267 |
Squamous Cell Carcinoma, Head And Neck |
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Squamous cell carcinoma |
OMIM:275355 |
Nut Midline Carcinoma |
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Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Isolated Anencephaly/Exencephaly |
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Anencephaly |
ORPHA:1048 |
Disseminated Superficial Actinic Porokeratosis |
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Squamous cell carcinoma |
ORPHA:79152 |
Cheilitis Glandularis |
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Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Craniotelencephalic Dysplasia |
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Absent septum pellucidum, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesi... |
OMIM:218670 |
Corneal Dystrophy, Congenital Stromal |
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Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Corneal Endothelial Dystrophy |
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Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Li-Fraumeni Syndrome 2 |
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Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Megalocornea |
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Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Rhabdoid Tumor Predisposition Syndrome 2 |
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Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Holoprosencephaly |
OMIM:617967 |
Craniotelencephalic Dysplasia |
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Hydrocephalus, Microcephaly, Arrhinencephaly, Cerebellar hypoplasia, Agenesis of corpus callosum,... |
ORPHA:1528 |
Cornea Plana 2, Autosomal Recessive |
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Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Neural Tube Defects, Susceptibility To |
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Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Keratoconus 1 |
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Keratoconus, Astigmatism |
OMIM:148300 |
Schopf-Schulz-Passarge Syndrome |
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Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
Hyperkeratosis Lenticularis Perstans |
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Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Keratoconus 6 |
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Keratoconus |
OMIM:614623 |
Keratoconus 5 |
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Keratoconus |
OMIM:614622 |
Keratoconus 8 |
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Keratoconus |
OMIM:614628 |
Keratoconus 7 |
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Keratoconus |
OMIM:614629 |
Colorectal Cancer, Susceptibility To, 12 |
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Colorectal polyposis, Carcinoma |
OMIM:615083 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
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Squamous cell carcinoma |
OMIM:613736 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Squamous cell carcinoma |
OMIM:618373 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Cerebral Sarcoma |
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Neoplasm, Fibrosarcoma |
OMIM:117600 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Spina bifida, Anencephaly |
ORPHA:2476 |
Hydrolethalus Syndrome 2 |
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Hydrocephalus, Anencephaly, Agenesis of corpus callosum |
OMIM:614120 |
Fetal Akinesia Syndrome, X-Linked |
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Agenesis of corpus callosum, Arrhinencephaly |
OMIM:300073 |
Diprosopus |
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Anencephaly |
ORPHA:1681 |
Brittle Cornea Syndrome 2 |
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Flat cornea, Megalocornea, Gait disturbance, Keratoconus, Keratoglobus, Sclerocornea, Decreased c... |
OMIM:614170 |
Anencephaly 2 |
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Anencephaly |
OMIM:619452 |
Schöpf-Schulz-Passarge Syndrome |
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Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Xeroderma Pigmentosum Variant |
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Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Hydranencephaly, Agenesis of corpus callosum,... |
OMIM:225790 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Macular Corneal Dystrophy |
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Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Edict Syndrome |
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Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract |
OMIM:614303 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Hydrocephalus, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, Type II lissencephaly, Occ... |
OMIM:615287 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Nephrobla... |
ORPHA:158057 |
Schisis Association |
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Microcephaly, Encephalocele, Spina bifida, Anencephaly |
ORPHA:63862 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
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Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Microcephaly, Hydranencephaly |
OMIM:601355 |
Meckel Syndrome, Type 4 |
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Hydrocephalus, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Agenesis of cerebell... |
OMIM:611134 |
Epidermodysplasia Verruciformis, X-Linked |
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Squamous cell carcinoma of the skin, Verrucae |
OMIM:305350 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Cerebral cortical atrophy, Holoprosencephaly, Microcephaly, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:2570 |
Xeroderma Pigmentosum, Complementation Group F |
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Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of the skin, Seborrheic ... |
OMIM:278760 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Squamous cell carcinoma, Squamous cell carcinoma of the vulva, Anal canal squamous carcinoma, Ver... |
ORPHA:217390 |
Distal Monosomy 13Q |
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Holoprosencephaly, Microcephaly, Anencephaly, Encephalocele, Aplasia/Hypoplasia of the corpus cal... |
ORPHA:1590 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Craniorachischisis |
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Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Punctate Palmoplantar Keratoderma Type 1 |
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Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Microhydranencephaly |
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Microcephaly, Cerebellar hypoplasia, Pachygyria, Hydranencephaly, Agenesis of corpus callosum, Hy... |
OMIM:605013 |
Aminopterin/Methotrexate Embryofetopathy |
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Hydrocephalus, Holoprosencephaly, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the cerebellum... |
ORPHA:1908 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Leber Congenital Amaurosis 7 |
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Keratoconus, Cataract |
OMIM:613829 |
Epidermodysplasia Verruciformis |
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Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Meckel Syndrome, Type 5 |
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Occipital encephalocele, Anencephaly |
OMIM:611561 |
Xeroderma Pigmentosum, Variant Type |
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Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma |
OMIM:278750 |
Meckel Syndrome, Type 2 |
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Encephalocele, Anencephaly, Dandy-Walker malformation, Meningocele |
OMIM:603194 |
Meckel Syndrome, Type 10 |
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Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:614175 |
Cutaneous Neuroendocrine Carcinoma |
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Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Necrobiosis Lipoidica |
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Squamous cell carcinoma |
ORPHA:542592 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Hydrolethalus |
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Hydrocephalus, Absent septum pellucidum, Anencephaly, Arrhinencephaly, Agenesis of corpus callosum |
ORPHA:2189 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Leber Congenital Amaurosis 6 |
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Keratoconus, Cataract |
OMIM:613826 |
Werner Syndrome |
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Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... |
ORPHA:902 |
Ichthyosis, Hystrix-Like, With Deafness |
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Squamous cell carcinoma |
OMIM:602540 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
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Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Hydranencephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem |
OMIM:236500 |
Brittle Cornea Syndrome 1 |
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Abnormal cornea morphology, Keratoconus, Keratoglobus, Decreased corneal thickness |
OMIM:229200 |
Colorectal Cancer, Susceptibility To, 10 |
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Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
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Squamous cell carcinoma of the skin |
ORPHA:85112 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Squamous cell carcinoma |
OMIM:243700 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Lissencephaly... |
ORPHA:63259 |
Acquired Ichthyosis |
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Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Maffucci Syndrome |
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Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Lattice Corneal Dystrophy Type I |
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Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Chromomycosis |
|
Squamous cell carcinoma, Multiple cutaneous malignancies |
ORPHA:182 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Cerebral calcification, Microcephaly, Hydranencephaly, Meningocele, Porencephal... |
ORPHA:1393 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... |
ORPHA:296 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microcephaly, Anencephaly, Encephalocele, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:619148 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Arrhinencephaly |
ORPHA:1788 |
Fanconi Anemia, Complementation Group P |
|
Squamous cell carcinoma |
OMIM:613951 |
Papillon-Lefèvre Syndrome |
|
Squamous cell carcinoma, Melanoma, Neoplasm of the skin |
ORPHA:678 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Anencephaly, Encephalocele |
ORPHA:1335 |
Porokeratosis |
|
Squamous cell carcinoma of the skin |
ORPHA:79358 |
Microgastria-Limb Reduction Defects Association |
|
Fusion of the left and right thalami, Arrhinencephaly, Polymicrogyria, Porencephalic cyst, Agenes... |
OMIM:156810 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
49,Xxxxy Syndrome |
|
Arrhinencephaly, Hypoplasia of the corpus callosum, Holoprosencephaly |
ORPHA:96264 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Polymicrogyria |
OMIM:616546 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Spina bifida, Hydranencephaly |
ORPHA:2839 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly |
ORPHA:887 |
Brittle Cornea Syndrome |
|
Corneal scarring, Gait disturbance, Corneal erosion, Corneal dystrophy, Keratoglobus, Decreased c... |
ORPHA:90354 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Squamous cell carcinoma |
OMIM:226600 |
Trichothiodystrophy 1, Photosensitive |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:601675 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Thoracoabdominal Syndrome |
|
Hydrocephalus, Anencephaly |
OMIM:313850 |
Caudal Regression Syndrome |
|
Arrhinencephaly |
ORPHA:3027 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Trisomy 18 |
|
Holoprosencephaly, Microcephaly, Anencephaly, Spina bifida, Aplasia/Hypoplasia of the corpus call... |
ORPHA:3380 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Squamous cell carcinoma |
OMIM:148210 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
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 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
Xeroderma Pigmentosum, Complementation Group E |
|
Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma |
OMIM:278740 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Spina bifida, Aqueductal stenosis, Arrhinencephaly |
ORPHA:3412 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Cousin Syndrome |
|
Hydrocephalus, Hydranencephaly |
OMIM:260660 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Anencephaly, Holoprosencephaly |
OMIM:269860 |
Xeroderma Pigmentosum, Complementation Group C |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Cutaneous melanoma |
OMIM:278720 |
Meckel Syndrome |
|
Hydrocephalus, Microcephaly, Anencephaly, Encephalocele, Lobar holoprosencephaly, Dandy-Walker ma... |
ORPHA:564 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... |
ORPHA:2591 |
Kid Syndrome |
|
Squamous cell carcinoma, Trichilemmoma, Neoplasm of the skin, Neoplasm of the tongue |
ORPHA:477 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Rothmund-Thomson Syndrome, Type 2 |
|
Squamous cell carcinoma, Osteosarcoma, Basal cell carcinoma |
OMIM:268400 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Trichothiodystrophy |
|
Squamous cell carcinoma |
ORPHA:33364 |
Bloom Syndrome |
|
Squamous cell carcinoma, Leukemia, Lymphoma |
OMIM:210900 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Short umbilical cord, Anencephaly, Spina bifida occulta, Encepha... |
ORPHA:2369 |
Meckel Syndrome, Type 1 |
|
Cerebral hypoplasia, Hydrocephalus, Microcephaly, Anencephaly, Cerebellar hypoplasia, Occipital e... |
OMIM:249000 |
Hereditary Acrokeratotic Poikiloderma |
|
Squamous cell carcinoma, Transitional cell carcinoma of the bladder |
ORPHA:2907 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Pachygyria, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Exencephaly... |
ORPHA:2211 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Squamous cell carcinoma |
ORPHA:89842 |
Oculocutaneous Albinism Type 1B |
|
Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma |
ORPHA:79434 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Hydrolethalus Syndrome 1 |
|
Anencephaly, Severe hydrocephalus, Arrhinencephaly, Abnormal cortical gyration, Agenesis of corpu... |
OMIM:236680 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
Xeroderma Pigmentosum, Complementation Group B |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Neoplasm, Cutaneous melanoma |
OMIM:610651 |
Aicardi-Goutières Syndrome |
|
Multifocal cerebral white matter abnormalities, Cerebral calcification, Microcephaly, Arrhinencep... |
ORPHA:51 |
Dyskeratosis Congenita, X-Linked |
|
Hodgkin lymphoma, Squamous cell carcinoma, Myelodysplasia, Acute myeloid leukemia, Carcinoma |
OMIM:305000 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... |
OMIM:610755 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness |
ORPHA:293967 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm |
ORPHA:69077 |
Angelman Syndrome |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Self-injurious behavior, Anxiety, As... |
ORPHA:72 |
Microgastria-Limb Reduction Defect Syndrome |
|
Agenesis of corpus callosum, Arrhinencephaly, Abnormal cortical gyration, Absent septum pellucidum |
ORPHA:2538 |
Neu-Laxova Syndrome 1 |
|
Microcephaly, Short umbilical cord, Cerebellar hypoplasia, Hydranencephaly, Small placenta, Lisse... |
OMIM:256520 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of t... |
ORPHA:83469 |
22Q11.2 Deletion Syndrome |
|
Hydrocephalus, Microcephaly, Arrhinencephaly, Umbilical hernia, Meningocele, Spina bifida, Occipi... |
ORPHA:567 |
Oculocutaneous Albinism Type 1A |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma |
ORPHA:79431 |
Pallister-Hall Syndrome |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Hypothalamic hamartoma, Holopro... |
ORPHA:672 |
Kindler Epidermolysis Bullosa |
|
Squamous cell carcinoma, Neoplasm of the urethra |
ORPHA:2908 |
Ring Chromosome 13 Syndrome |
|
Microcephaly, Anencephaly, Agenesis of corpus callosum |
ORPHA:96176 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Fryns Syndrome |
|
Hypoplasia of the optic tract, Arrhinencephaly, Hypoplasia of olfactory tract, Agenesis of corpus... |
OMIM:229850 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Squamous cell carcinoma, Renal tubular epithelial necrosis |
ORPHA:79404 |
Congenital Erythropoietic Porphyria |
|
Squamous cell carcinoma, Neoplasm of the skin |
ORPHA:79277 |
Dyskeratosis Congenita, Digenic |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Melanoma |
OMIM:620040 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Hypoplasia of the frontal lobes, Arrhinencephaly, Cerebellar hypoplasia, Primary m... |
ORPHA:3472 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Esophageal carcinoma |
ORPHA:391487 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Arrhinencephaly |
ORPHA:1106 |
Oculocutaneous Albinism |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Cutaneous melanoma |
ORPHA:55 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma |
ORPHA:662 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Melanoma |
ORPHA:220295 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... |
ORPHA:352540 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
Oculocutaneous Albinism Type 2 |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Cutaneous melanoma |
ORPHA:79432 |
Doors Syndrome |
|
Microcephaly, Arrhinencephaly, Spina bifida occulta, Polymicrogyria, Sirenomelia, Dandy-Walker ma... |
ORPHA:79500 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Squamous cell carcinoma, Cutaneous melanoma |
ORPHA:79408 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
Nail-Patella Syndrome |
|
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium |
OMIM:161200 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:127550 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness |
OMIM:618175 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Holoprosencephaly, Microcephaly, Arrhinenc... |
OMIM:214800 |
Lacrimoauriculodentodigital Syndrome |
|
Corneal ulceration, Corneal neovascularization, Keratoconjunctivitis, Recurrent corneal erosions,... |
ORPHA:2363 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma, Pulmonary carcinoid tumor, Papillary r... |
ORPHA:363618 |
Costello Syndrome |
|
Keratoconus |
ORPHA:3071 |
Gapo Syndrome |
|
Keratoconus |
ORPHA:2067 |
Hermansky-Pudlak Syndrome |
|
Squamous cell carcinoma of the skin, Basal cell carcinoma |
ORPHA:79430 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Microcephaly, Arrhinencephaly, Hypoplasia of the corpus callosum... |
OMIM:216340 |
Arterial Tortuosity Syndrome |
|
Keratoconus |
OMIM:208050 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Squamous cell carcinoma of the skin |
ORPHA:79396 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus |
ORPHA:3342 |
Gapo Syndrome |
|
Keratoconus |
OMIM:230740 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... |
ORPHA:636 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Microcornea |
OMIM:225400 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconjunctivitis sicca, Keratoconus |
ORPHA:285 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology, Cognitive impairment |
ORPHA:286 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus |
OMIM:130050 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Thin corpus callosum, Diffuse cerebral atrophy, Hypothalamic hamartoma |
OMIM:619908 |