| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma, Verrucae |
OMIM:618267 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Tumor Predisposition Syndrome 1 |
|
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... |
OMIM:614327 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
| Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| N Syndrome |
|
Leukemia, Abnormality of chromosome stability, Neoplasm |
OMIM:310465 |
| Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... |
OMIM:604229 |
| Lung Cancer |
|
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma |
OMIM:211980 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... |
ORPHA:454840 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... |
OMIM:614170 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Abnormality of chromosome stability, Myelodysplasia |
OMIM:614082 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Neoplasm of the skin, Deficient excision of UV-induced pyrimidine dimers in DNA, Squamous cell ca... |
OMIM:278760 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Schöpf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Xeroderma Pigmentosum Variant |
|
Basal cell carcinoma, Melanoma, Squamous cell carcinoma |
ORPHA:90342 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Colon cancer, Hepatospl... |
ORPHA:158057 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity |
OMIM:277950 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma, Anal canal squamous carc... |
ORPHA:217390 |
| Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... |
ORPHA:79501 |
| Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
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 |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
| Cutaneous Neuroendocrine Carcinoma |
|
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... |
ORPHA:79140 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
| Microphthalmia/Coloboma 9 |
|
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis |
OMIM:615145 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
| Epidermodysplasia Verruciformis |
|
Squamous cell carcinoma, Verrucae |
ORPHA:302 |
| Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
| Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy |
ORPHA:1806 |
| Al-Gazali Syndrome |
|
Sclerocornea, Osteopenia, Corneal opacity |
OMIM:609465 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
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, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Microphthalmia With Brain And Digit Anomalies |
|
Sclerocornea, Cataract, Microcornea, Iris coloboma |
ORPHA:139471 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
| Mietens Syndrome |
|
Sclerocornea, Cataract, Microcornea, Corneal opacity |
ORPHA:2557 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
| Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma |
OMIM:278750 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Oropharyngeal squamous cell carcinoma, Actinic keratosis, Breast carcinoma |
OMIM:614564 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Werner Syndrome |
|
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... |
ORPHA:902 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity |
OMIM:608470 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
| Fanconi Anemia, Complementation Group P |
|
Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Aniridia, Sclerocornea, Craniosynostosis, Iris coloboma |
ORPHA:251038 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Granular Corneal Dystrophy Type Ii |
|
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Coronal craniosynostosis, Astigmatism |
ORPHA:2095 |
| Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... |
OMIM:612109 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Immunodeficiency 54 |
|
Hepatomegaly, Chromosome breakage, Lymphoproliferative disorder |
OMIM:609981 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Decreased fumarate hydratase... |
OMIM:150800 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Microcornea, Peters anomaly, Sclerocornea, Iris coloboma |
OMIM:243605 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Azoospermia, Hepatic steatosi... |
OMIM:210900 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Sclerocornea, Corneal opacity |
ORPHA:284160 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Basal cell carcinoma, Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous... |
OMIM:278740 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma |
ORPHA:77298 |
| Bazex Syndrome |
|
Liposarcoma, Lung adenocarcinoma, Neoplasm |
ORPHA:166113 |
| Granular Corneal Dystrophy Type I |
|
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Elevated circulating hepatic transaminase concentration, Neo... |
ORPHA:100 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
| Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Cutaneous melanoma, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma,... |
OMIM:278720 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Limbal Stem Cell Deficiency |
|
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma |
OMIM:617883 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... |
OMIM:231095 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Limbal dermoid, Hypoplasia of the iris |
OMIM:613001 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Reduced bone mineral density, Corneal opacity |
ORPHA:577 |
| Chromomycosis |
|
Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
| Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
| Papillon-Lefèvre Syndrome |
|
Neoplasm of the skin, Melanoma, Squamous cell carcinoma, Liver abscess |
ORPHA:678 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Corneal opacity |
ORPHA:2370 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Sclerocornea, Cataract |
OMIM:614230 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... |
OMIM:613270 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Squamous cell carcinoma |
OMIM:226600 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy |
OMIM:602082 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity |
ORPHA:1473 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Lig4 Syndrome |
|
Hepatomegaly, Acute leukemia, Abnormality of chromosome stability, Lymphoma |
ORPHA:99812 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Squamous cell carcinoma, Sclerosing cholangitis |
OMIM:243700 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Familial Adenomatous Polyposis 1 |
|
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Carpal osteolysis, Metacarpal osteolysis, Metatarsal osteolysis, Osteolysis involving... |
OMIM:166300 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Opacification of the corneal stroma, Corneal opacity |
OMIM:271530 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Opsoclonus-Myoclonus Syndrome |
|
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... |
ORPHA:1183 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Trichothiodystrophy 1, Photosensitive |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:601675 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma |
OMIM:618913 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Squamous cell carcinoma |
OMIM:148210 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Squamous cell carcinoma of the skin |
OMIM:620443 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Sclerocornea, Cataract, Iris coloboma, Peters anomaly |
OMIM:309801 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Cancer-Associated Retinopathy |
|
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... |
ORPHA:71505 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Irregular tarsal ossification, Corneal dystrophy, Subepithelial corne... |
OMIM:221800 |
| Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Leukemia, Myelodys... |
ORPHA:221008 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Sclerocornea, Asplenia |
ORPHA:564 |
| Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Osteoporosis, Iris coloboma, Megalocornea |
ORPHA:280 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea, Craniosynostosis |
OMIM:600920 |
| Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Leukemia, Myelodys... |
ORPHA:2909 |
| Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Melanoma, Squamous cell carcinoma, Leukemia... |
ORPHA:221016 |
| Legius Syndrome |
|
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
| Ophthalmomandibulomelic Dysplasia |
|
Abnormality of bone mineral density, Corneal opacity, Megalocornea |
ORPHA:2741 |
| Fanconi Anemia, Complementation Group N |
|
Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin... |
OMIM:610832 |
| Phace Syndrome |
|
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma |
ORPHA:42775 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Generalized bone demineralization, Abnormal T cell morphology |
OMIM:215250 |
| Sialidosis Type 2 |
|
Osteoporosis, Splenomegaly, Corneal opacity |
ORPHA:87876 |
| Dyskeratosis Congenita, X-Linked |
|
Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Squamous cell carcinoma, Acute myeloid l... |
OMIM:305000 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Squamous cell carcinoma of the skin, Myelodysplasia, Portal hypertension |
OMIM:620365 |
| Trichothiodystrophy |
|
Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma |
ORPHA:33364 |
| Microphthalmia, Syndromic 3 |
|
Sclerocornea, Cataract |
OMIM:206900 |
| Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Cataract, Iris coloboma |
ORPHA:818 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous cell carcinoma of the... |
OMIM:278700 |
| Oculocutaneous Albinism Type 1B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
ORPHA:79434 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Kid Syndrome |
|
Neoplasm of the skin, Trichilemmoma, Neoplasm of the tongue, Squamous cell carcinoma |
ORPHA:477 |
| Asbestos Intoxication |
|
Malignant mesothelioma, Lung adenocarcinoma |
ORPHA:2302 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Squamous cell carcinoma |
ORPHA:89842 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
| Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Corneal opacity, Anemia |
ORPHA:290 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm, Cutaneous melanoma |
OMIM:610651 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Sclerocornea, Posterior embryotoxon, Corneal opacity |
ORPHA:2556 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma, Osteosarcoma |
OMIM:268400 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Developmental cataract, Corneal opacity |
OMIM:618815 |
| Hereditary Acrokeratotic Poikiloderma |
|
Squamous cell carcinoma, Transitional cell carcinoma of the bladder |
ORPHA:2907 |
| Neurocardiofaciodigital Syndrome |
|
Sclerocornea, Cataract |
OMIM:619869 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... |
OMIM:610755 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia |
OMIM:615272 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Osteopenia, Hepatosplenomegaly, Pancytopenia, Corneal opacity |
ORPHA:309288 |
| Fish-Eye Disease |
|
Splenomegaly, Corneal opacity |
ORPHA:79292 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... |
ORPHA:98957 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... |
ORPHA:163934 |
| Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... |
ORPHA:649 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Abnormality of chromosome stability, Glioma, Lymphoma, Neoplasm, B-cell lymphoma,... |
ORPHA:647 |
| Alpha-Mannosidosis |
|
Cataract, Craniofacial hyperostosis, Splenomegaly, Corneal opacity |
ORPHA:61 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteoporosis, Osteopenia, Corneal opacity |
ORPHA:2788 |
| Yunis-Varon Syndrome |
|
Sclerocornea, Cataract, Absent sternal ossification, Decreased skull ossification |
ORPHA:3472 |
| Fanconi Anemia, Complementation Group E |
|
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... |
OMIM:600901 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
| Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
| Fanconi Anemia, Complementation Group A |
|
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... |
OMIM:227650 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Corneal opacity |
ORPHA:281090 |
| Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Acute myeloid leukemia |
OMIM:617052 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Craniosynostosis, Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Corneal opacity |
OMIM:618961 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity |
OMIM:152950 |
| Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
| Digeorge Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Posterior embryotoxon, Anemia, Thrombocytopenia, Scleroco... |
OMIM:188400 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93476 |
| Kindler Epidermolysis Bullosa |
|
Squamous cell carcinoma, Neoplasm of the urethra |
ORPHA:2908 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Harel-Yoon Syndrome |
|
Developmental cataract, Corneal opacity |
OMIM:617183 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
| Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
| Fanconi Anemia, Complementation Group C |
|
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... |
OMIM:227645 |
| Dyskeratosis Congenita, Digenic |
|
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin |
OMIM:620040 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity |
OMIM:619339 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Hepatosplenomegaly, Esophageal carcinoma, Hepatitis |
ORPHA:391487 |
| Oncogenic Osteomalacia |
|
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... |
ORPHA:352540 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
| Congenital Erythropoietic Porphyria |
|
Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:79277 |
| Microphthalmia, Syndromic 6 |
|
Sclerocornea, Lambdoidal craniosynostosis, Microcornea |
OMIM:607932 |
| Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
| Short Syndrome |
|
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... |
ORPHA:3163 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Squamous cell carcinoma |
ORPHA:79404 |
| Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Megalocornea, Corneal opacity, Osteoporosis, Craniosynostosis, Developmental glaucoma |
ORPHA:2409 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Squamous cell carcinoma, Cutaneous melanoma |
ORPHA:79408 |
| Icf Syndrome |
|
Abnormality of chromosome stability |
ORPHA:2268 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Astigmatism, Thrombocytopenia, Corneal opacity, Craniosynostosis |
OMIM:301056 |
| Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
| Fanconi Anemia, Complementation Group D2 |
|
Leukemia, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced... |
OMIM:227646 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals, Rickets |
OMIM:219900 |
| Yunis-Varon Syndrome |
|
Cataract, Decreased skull ossification, Decreased calvarial ossification, Sclerocornea, Delayed o... |
OMIM:216340 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Cirrhosis, Hepatic necrosis, Myelodysplasia |
OMIM:127550 |
| Sialidosis Type 1 |
|
Cataract, Splenomegaly, Corneal opacity |
ORPHA:812 |
| Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
| Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Developmental cataract, Corneal opacity |
OMIM:616603 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Abnormal intrahepatic bile d... |
ORPHA:363618 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Carpal osteolysis, Peripheral opacification of the cornea, Metacarpal osteolysis, Met... |
OMIM:259600 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
| Cowden Syndrome 1 |
|
Thyroid adenoma, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast, Ovarian carcinoma, ... |
OMIM:158350 |
| Meningioma |
|
Neoplasm of the skin, Neurofibroma, Neoplasm of the anterior pituitary, Spinal meningioma, Chromo... |
ORPHA:2495 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Generalized osteoporosis, Osteolysis, Corneal opacity |
ORPHA:423461 |
| Zellweger Syndrome |
|
Cataract, Epiphyseal stippling, Posterior embryotoxon, Corneal opacity, Brushfield spots |
ORPHA:912 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
| Mucopolysaccharidosis Type 7 |
|
Epiphyseal stippling, Splenomegaly, Corneal opacity |
ORPHA:584 |
| Cystinosis |
|
Rickets, Corneal opacity |
ORPHA:213 |
| Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93474 |
| Farber Disease |
|
Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Osteoporosis, Opacification of the... |
ORPHA:333 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Osteolysis, Corneal erosion |
ORPHA:1764 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of chromosome stability |
ORPHA:175 |
| Fanconi Anemia |
|
Abnormality of chromosome stability, Azoospermia, Abnormality of the liver, Neoplasm, Myelodysplasia |
ORPHA:84 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
| Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Hepatosplenomegaly, Corneal opacity |
ORPHA:93399 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Distal Deletion 6P |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... |
ORPHA:96125 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne... |
ORPHA:99889 |
| Congenital Sialidosis Type 2 |
|
Cataract, Hepatosplenomegaly, Developmental cataract, Corneal opacity |
ORPHA:93400 |
| Multiple Sulfatase Deficiency |
|
Cataract, Splenomegaly, Corneal opacity |
ORPHA:585 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Corneal opacity |
OMIM:620469 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Astigmatism, Corneal opacity |
ORPHA:2323 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Hurler Syndrome |
|
Cranial hyperostosis, Hepatosplenomegaly, Splenomegaly, Corneal opacity, Calvarial hyperostosis, ... |
OMIM:607014 |
| Mucopolysaccharidosis, Type Ivb |
|
Osteoporosis, Opacification of the corneal stroma, Corneal opacity |
OMIM:253010 |
| Walker-Warburg Syndrome |
|
Cataract, Microcornea, Iris coloboma, Corneal opacity |
ORPHA:899 |
| Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79430 |
| Microphthalmia/Coloboma 12 |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... |
OMIM:114500 |
| Alpha-Mannosidosis, Infantile Form |
|
Cataract, Osteopenia, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Astigmatism, Cornea... |
ORPHA:309282 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Coarse metaphyseal trabecularization, Splenomegaly, Corneal opacity |
ORPHA:354 |
| Wilson Disease |
|
Anemia, Thrombocytopenia, Splenomegaly, Kayser-Fleischer ring |
ORPHA:905 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Carcinoma |
OMIM:610644 |
| Fanconi Anemia, Complementation Group F |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
OMIM:607015 |
| Mucopolysaccharidosis Type 4 |
|
Reduced bone mineral density, Corneal opacity |
ORPHA:582 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Ocular albinism, Corneal opacity, Anemia |
ORPHA:2719 |
| Oculocerebrocutaneous Syndrome |
|
Iris coloboma, Corneal opacity |
ORPHA:1647 |
| Wagro Syndrome |
|
Cataract, Aniridia, Corneal opacity |
OMIM:612469 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
| Dermatomyositis |
|
Elevated circulating hepatic transaminase concentration, Lymphoma, Neoplasm, Lung adenocarcinoma,... |
ORPHA:221 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Squamous cell carcinoma of the skin |
ORPHA:79396 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity |
OMIM:272200 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Incontinentia Pigmenti |
|
Cataract, Keratitis, Eosinophilia, Corneal opacity, Osteolysis |
ORPHA:464 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Corneal opacity, Iris coloboma, Osteolysis |
ORPHA:2396 |
| Premature Aging Syndrome, Penttinen Type |
|
Osteoporosis, Corneal stromal edema, Osteolytic defects of the distal phalanges of the hand, Corn... |
OMIM:601812 |
| Gaucher Disease |
|
Splenic infarction, Osteopenia, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thromboc... |
ORPHA:355 |
| Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
| Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Neoplasm, Cholesteatoma, Astrocytoma, Hemangioma, Neuroblastoma, Prolo... |
ORPHA:821 |
| Focal Dermal Hypoplasia |
|
Ectopia lentis, Coarse metaphyseal trabecularization, Hypoplasia of the iris, Corneal opacity, Ir... |
ORPHA:2092 |
| De Barsy Syndrome |
|
Cataract, Osteopenia, Corneal opacity |
ORPHA:2962 |
| Mucopolysaccharidosis Type 3 |
|
Cataract, Craniofacial hyperostosis, Splenomegaly, Corneal opacity, Opacification of the corneal ... |
ORPHA:581 |
| Fabry Disease |
|
Cataract, Conjunctival telangiectasia, Corneal opacity, Cornea verticillata, Anemia, Reduced bone... |
ORPHA:324 |
| Tangier Disease |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity |
ORPHA:31150 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos |
OMIM:236670 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Posterior subcapsular cataract, Megalocornea, Sagittal craniosynostosis, Corneal opac... |
ORPHA:536471 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Acute lymphoblastic leukemia, Osteolysis, Corneal opacity |
ORPHA:1052 |
| Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Corneal opacity |
OMIM:253220 |
| Mosaic Trisomy 9 |
|
Asplenia, Corneal opacity |
ORPHA:99776 |
| Tbck-Related Intellectual Disability Syndrome |
|
Osteoporosis, Corneal opacity |
ORPHA:488632 |
| Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Corneal opacity |
ORPHA:579 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
OMIM:608940 |
| Chime Syndrome |
|
Acute leukemia, Osteolysis, Corneal opacity |
ORPHA:3474 |
| Hurler Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93473 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Corneal opacity, Anemia |
OMIM:274000 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... |
OMIM:175780 |
| Congenital Disorder Of Deglycosylation 1 |
|
Osteoporosis, Corneal ulceration, Corneal opacity |
OMIM:615273 |
| Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
| Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Cataract, Osteomalacia, Abnormal pupil morphology, Thrombocytopenia, Corneal opacity... |
ORPHA:534 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Corneal opacity |
OMIM:620519 |
| 3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
| Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Corneal opacity, Megalocornea |
ORPHA:137675 |
| Neurofibromatosis Type 1 |
|
Cataract, Chronic myelogenous leukemia, Osteopenia, Heterochromia iridis, Lisch nodules, Corneal ... |
ORPHA:636 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormal cortical bone morphology, Decreased skull ossification, Thrombocytopenia, Co... |
ORPHA:666 |
| Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Corneal opacity |
OMIM:253200 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Wilson Disease |
|
Sunflower cataract, Kayser-Fleischer ring, Osteomalacia, Splenomegaly, Thrombocytopenia, Anemia, ... |
OMIM:277900 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Corn... |
ORPHA:2072 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
| Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
| Larsen Syndrome |
|
Multiple carpal ossification centers, Corneal opacity |
OMIM:150250 |
| 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 dystrophy, Corneal opacity |
ORPHA:495875 |
| Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Developmental cataract, Corneal opacity |
ORPHA:90348 |
| Williams Syndrome |
|
Cataract, Osteopenia, Megalocornea, Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Blue i... |
ORPHA:904 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Hepatosplenomegaly, Splenomegaly, Corneal opacity |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hepatosplenomegaly, Splenomegaly, Corneal opacity |
ORPHA:217093 |
| Proboscis Lateralis |
|
Cataract, Microcornea, Iris coloboma, Corneal opacity |
ORPHA:141099 |
| Hutchinson-Gilford Progeria Syndrome |
|
Corneal opacity, Osteolytic defects of the distal phalanges of the hand, Reduced bone mineral den... |
ORPHA:740 |
| Peters Plus Syndrome |
|
Cataract, Microcornea, Peters anomaly, Corneal opacity, Iris coloboma, Anterior chamber synechiae |
ORPHA:709 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Astigmatism, Corneal opacity, Conjunctivitis, Corneal erosion |
ORPHA:2273 |
| Limb Body Wall Complex |
|
Lens subluxation, Iris coloboma, Corneal opacity |
ORPHA:2369 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Osteopenia, Corneal opacity |
ORPHA:3455 |
| Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Craniosynostosis, Opacification of the corneal stroma |
OMIM:268300 |
