| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
| Cheilitis Glandularis |
|
Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Neoplasm, Cryptorchidism |
OMIM:310465 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... |
OMIM:278760 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... |
ORPHA:158057 |
| Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis, Corneal opacity |
OMIM:277950 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Junctional Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79406 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma |
ORPHA:217390 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79411 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
| Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Al-Gazali Syndrome |
|
Osteopenia, Corneal opacity, Sclerocornea |
OMIM:609465 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Squamous cell carcinoma |
OMIM:615225 |
| Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma |
OMIM:613951 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma |
OMIM:614564 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Craniosynostosis, Aniridia, Iris coloboma |
ORPHA:251038 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Astigmatism, Sclerocornea |
ORPHA:2095 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79409 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Immunodeficiency 54 |
|
Chromosome breakage, Lymphoproliferative disorder, Hepatomegaly |
OMIM:609981 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79410 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
| Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U... |
OMIM:150800 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Abnormality of chromosome stability, Neoplasm, Abnormal testis mor... |
ORPHA:100 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Squamous cell... |
OMIM:210900 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... |
OMIM:278740 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Squamous cell carcinoma |
OMIM:243700 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... |
OMIM:278720 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
| Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Reduced bone mineral density |
ORPHA:577 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Chromomycosis |
|
Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Reduced bone mineral density |
ORPHA:2370 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Papillon-Lefèvre Syndrome |
|
Melanoma, Liver abscess, Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:678 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Lig4 Syndrome |
|
Hepatomegaly, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Acute leukemia |
ORPHA:99812 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Squamous cell carcinoma |
OMIM:226600 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Osteolysis involving tarsal bones, Metatarsal osteolysis, Metacarpal... |
OMIM:166300 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
| Trichothiodystrophy 1, Photosensitive |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:601675 |
| Rothmund-Thomson Syndrome Type 1 |
|
Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm... |
ORPHA:221008 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Squamous cell carcinoma |
OMIM:148210 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Sclerocornea, Peters anomaly |
OMIM:309801 |
| Rothmund-Thomson Syndrome Type 2 |
|
Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma... |
ORPHA:221016 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... |
OMIM:221800 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma |
OMIM:618913 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:620365 |
| Rothmund-Thomson Syndrome |
|
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... |
ORPHA:2909 |
| Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea, Craniosynostosis |
OMIM:600920 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity, Abnormality of bone mineral density |
ORPHA:2741 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
| Wolf-Hirschhorn Syndrome |
|
Megalocornea, Osteoporosis, Iris coloboma, Sclerocornea |
ORPHA:280 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
| Sialidosis Type 2 |
|
Splenomegaly, Osteoporosis, Corneal opacity |
ORPHA:87876 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Cryptorchidism |
OMIM:613390 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
| Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
| Trichothiodystrophy |
|
Cryptorchidism, Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma |
ORPHA:33364 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Ho... |
OMIM:305000 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... |
OMIM:278700 |
| Smith-Lemli-Opitz Syndrome |
|
Cataract, Iris coloboma, Sclerocornea |
ORPHA:818 |
| Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
| Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
| Kid Syndrome |
|
Trichilemmoma, Neoplasm of the tongue, Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:477 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Basal cell carcinoma, Osteosarcoma, Squamous cell carcinoma |
OMIM:268400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia |
ORPHA:290 |
| Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Squamous cell carcinoma |
ORPHA:89842 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
| Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:600901 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Posterior embryotoxon, Corneal opacity, Sclerocornea |
ORPHA:2556 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
| Fish-Eye Disease |
|
Splenomegaly, Corneal opacity |
ORPHA:79292 |
| Hereditary Acrokeratotic Poikiloderma |
|
Transitional cell carcinoma of the bladder, Squamous cell carcinoma |
ORPHA:2907 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia |
OMIM:615272 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-cell ... |
ORPHA:647 |
| Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:227650 |
| Alpha-Mannosidosis |
|
Splenomegaly, Craniofacial hyperostosis, Cataract, Corneal opacity |
ORPHA:61 |
| Asbestos Intoxication |
|
Malignant mesothelioma, Lung adenocarcinoma |
ORPHA:2302 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Osteoporosis, Corneal opacity |
ORPHA:2788 |
| Yunis-Varon Syndrome |
|
Decreased skull ossification, Absent sternal ossification, Sclerocornea, Cataract |
ORPHA:3472 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Cryptorchidism |
OMIM:617052 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
| Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis |
ORPHA:1064 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity, Coarse metaphyseal trabecularization |
OMIM:618961 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
| Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:227645 |
| Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Decreased testicular size |
OMIM:620040 |
| Digeorge Syndrome |
|
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Posterior embryotoxon, An... |
OMIM:188400 |
| Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93476 |
| Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| 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, Hepatitis, Hepatosplenomegaly |
ORPHA:391487 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
| Congenital Erythropoietic Porphyria |
|
Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:79277 |
| Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
| Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea, Lambdoidal craniosynostosis |
OMIM:607932 |
| Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Developmental glaucoma, Osteoporosis, Megalocornea |
ORPHA:2409 |
| Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
| Fanconi Anemia, Complementation Group D2 |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:227646 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79408 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Squamous cell carcinoma |
ORPHA:79404 |
| Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
| Icf Syndrome |
|
Abnormality of chromosome stability |
ORPHA:2268 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Craniosynostosis, Leukopenia, Astigmatism, Thrombocytopenia |
OMIM:301056 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Corneal crystals |
OMIM:219900 |
| Yunis-Varon Syndrome |
|
Absent sternal ossification, Cataract, Sclerocornea, Decreased calvarial ossification, Delayed os... |
OMIM:216340 |
| Sialidosis Type 1 |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:812 |
| Cowden Syndrome 1 |
|
Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Hydrocele testi... |
OMIM:158350 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
| Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Squamous cell carcinoma of the skin, Myelodysplasia, Hepatic necrosis |
OMIM:127550 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Corneal opacity, Developmental cataract |
OMIM:616603 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Abnormal intrahepatic bile duct morpho... |
ORPHA:363618 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Corneal opacity, Osteoporosis, Osteolysis inv... |
OMIM:259600 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion... |
ORPHA:1830 |
| Zellweger Syndrome |
|
Cataract, Corneal opacity, Brushfield spots, Epiphyseal stippling, Posterior embryotoxon |
ORPHA:912 |
| Meningioma |
|
Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat... |
ORPHA:2495 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Cystinosis |
|
Rickets, Corneal opacity |
ORPHA:213 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
| Farber Disease |
|
Corneal opacity, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Abnormal conjunctiva morphol... |
ORPHA:333 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Epiphyseal stippling, Corneal opacity |
ORPHA:584 |
| Fanconi Anemia |
|
Abnormality of chromosome stability, Myelodysplasia, Cryptorchidism, Azoospermia, Abnormality of ... |
ORPHA:84 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
| Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93474 |
| Familial Dysautonomia |
|
Corneal opacity, Corneal erosion, Abnormal pupil morphology, Osteolysis, Heterochromia iridis |
ORPHA:1764 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:93399 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Decreased testicular size, Carcinoma |
OMIM:610644 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
| Congenital Sialidosis Type 2 |
|
Hepatosplenomegaly, Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
| Dermatomyositis |
|
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity, Patchy osteosclerosis |
ORPHA:2323 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of chromosome stability |
ORPHA:175 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:585 |
| Hurler Syndrome |
|
Corneal opacity, Splenomegaly, Cranial hyperostosis, Hepatosplenomegaly, Opacification of the cor... |
OMIM:607014 |
| Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
| Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Pancytopenia, Cataract, Corneal opacity, Craniosynostosis, Cranial hyperostosis, Oste... |
ORPHA:309282 |
| Gm1 Gangliosidosis |
|
Splenomegaly, Hepatosplenomegaly, Corneal opacity, Coarse metaphyseal trabecularization |
ORPHA:354 |
| Wilson Disease |
|
Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia |
ORPHA:905 |
| Mucopolysaccharidosis, Type Ivb |
|
Osteoporosis, Opacification of the corneal stroma, Corneal opacity |
OMIM:253010 |
| Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79430 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... |
ORPHA:99889 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
OMIM:607015 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
| Revesz Syndrome |
|
Abnormality of chromosome stability |
OMIM:268130 |
| Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Reduced bone mineral density |
ORPHA:582 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Squamous cell carcinoma of the skin |
ORPHA:79396 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity |
OMIM:272200 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Eosinophilia, Keratitis, Osteolysis |
ORPHA:464 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Corn... |
OMIM:601812 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Iris coloboma |
ORPHA:2396 |
| Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Corneal opacity, Thrombocytopenia, Sple... |
ORPHA:355 |
| Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Acute lymphoblas... |
ORPHA:821 |
| Tangier Disease |
|
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
| Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Iris coloboma, Coarse metaphyseal trabec... |
ORPHA:2092 |
| Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
| De Barsy Syndrome |
|
Osteopenia, Cataract, Corneal opacity |
ORPHA:2962 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Reduced bone mineral density,... |
ORPHA:581 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Corneal opacity, Sagittal craniosynostosis, Posterior subcapsular cataract, Megalocor... |
ORPHA:536471 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Cataract, Corneal opacity, Osteolysis |
ORPHA:1052 |
| Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Corneal opacity |
OMIM:253220 |
| Mosaic Trisomy 9 |
|
Asplenia, Corneal opacity |
ORPHA:99776 |
| Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Reduced bone mineral d... |
ORPHA:324 |
| Tbck-Related Intellectual Disability Syndrome |
|
Osteoporosis, Corneal opacity |
ORPHA:488632 |
| Colorectal Cancer |
|
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder |
OMIM:114500 |
| Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Corneal opacity |
ORPHA:579 |
| Chime Syndrome |
|
Corneal opacity, Osteolysis, Acute leukemia |
ORPHA:3474 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:274000 |
| Hurler Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93473 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... |
OMIM:175780 |
| Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
| Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Thrombocytopenia, Splenomegaly, Osteoporosis, Kayser-Fleischer ri... |
OMIM:277900 |
| Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Osteomalacia, Abnormal pupil morphology, Buphthalmos, Anemia, Lentiglo... |
ORPHA:534 |
| Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Osteoporosis, Corneal opacity |
OMIM:615273 |
| Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
| 3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
| Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi... |
ORPHA:2072 |
| Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Corneal opacity |
OMIM:253200 |
| Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
| Larsen Syndrome |
|
Corneal opacity, Multiple carpal ossification centers |
OMIM:150250 |
| Osteogenesis Imperfecta |
|
Osteopenia, Corneal opacity, Osteoporosis, Decreased skull ossification, Abnormal cortical bone m... |
ORPHA:666 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Leukemia, Heterochromia i... |
ORPHA:636 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal epiphyseal ossification, Splenomegaly, Corneal opacity |
ORPHA:580 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
| Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Corneal opacity, Developmental cataract |
ORPHA:90348 |
| Williams Syndrome |
|
Osteopenia, Increased bone mineral density, Flat cornea, Cataract, Corneal opacity, Osteoporosis,... |
ORPHA:904 |
| Proboscis Lateralis |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:141099 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:217093 |
| Hutchinson-Gilford Progeria Syndrome |
|
Corneal opacity, Reduced bone mineral density, Progressive clavicular acroosteolysis, Osteolytic ... |
ORPHA:740 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis |
ORPHA:2273 |
| Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae |
ORPHA:709 |
| Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
| Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Cataract, Corneal opacity |
ORPHA:3455 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Craniosynostosis, Opacification of the corneal stroma |
OMIM:268300 |
