Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract, Rod-cone dystrophy |
OMIM:300424 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors |
OMIM:114700 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
Book Syndrome |
|
Premature graying of hair, Hypodontia |
OMIM:112300 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract, Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy |
OMIM:617304 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta, Trichodysplasia, Alopecia of scalp |
ORPHA:79129 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... |
OMIM:612572 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Hypoplastic toenails, Tooth agenesis, Everted lower lip vermil... |
ORPHA:1028 |
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia, Sparse hair |
OMIM:272980 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... |
OMIM:180105 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Retinitis Pigmentosa 56 |
|
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... |
OMIM:613581 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... |
OMIM:602772 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea |
OMIM:615458 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... |
OMIM:613810 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Delayed ossification of carpal bones, Joint stiffness, Retinal detachment, Cataract |
OMIM:127200 |
Alopecia Antibody Deficiency |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... |
ORPHA:1006 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Atrophic, patchy alopecia, Enamel hypoplasia, Dystrophic... |
ORPHA:251393 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, R... |
ORPHA:93296 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Posterior subcapsular cataract, Optic disc p... |
OMIM:600132 |
Amelogenesis Imperfecta, Type Ia |
|
Taurodontia, Amelogenesis imperfecta, Generalized microdontia |
OMIM:104530 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Macular hyperpigmented dermopathy, Carious teeth, Dental enamel pits, Nail dystrophy, Dystrophic ... |
OMIM:619787 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... |
OMIM:618613 |
Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Gyrate Atrophy Of Choroid And Retina |
|
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... |
ORPHA:414 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... |
OMIM:613801 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:616469 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Posterior subcapsular cataract, Rod-c... |
OMIM:615233 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Exudative vitreoretinopathy, Osteopenia, Retinal detachment,... |
ORPHA:2788 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Cataract 21, Multiple Types |
|
Retinal detachment, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... |
ORPHA:891 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... |
OMIM:193230 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... |
OMIM:212550 |
Pilodental Dysplasia With Refractive Errors |
|
Sparse scalp hair, Reticular hyperpigmentation, Hypodontia, Brittle hair, Brittle scalp hair, Con... |
OMIM:262020 |
Gyrate Atrophy Of Choroid And Retina |
|
Posterior subcapsular cataract, Chorioretinal atrophy, Foveoschisis, Macular thickening |
OMIM:258870 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenesis imperfecta, ... |
ORPHA:1873 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo... |
ORPHA:2779 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
Neurofibromatosis, Type Ii |
|
Ataxia, Juvenile posterior subcapsular lenticular opacities, Peripheral Schwannoma, Bilateral ves... |
OMIM:101000 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Hypocalcemia, Retrognathia, Abnormality of the dentition, Oligodontia, Sho... |
ORPHA:557003 |
Hypertrichosis Lanuginosa Congenita |
|
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... |
ORPHA:2222 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Ameloonychohypohidrotic Syndrome |
|
Onycholysis, Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked ... |
OMIM:104570 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Flared metaphysis, Oligodontia,... |
OMIM:601668 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... |
OMIM:251270 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Trichodentoosseous Syndrome |
|
Taurodontia, Fragile nails, Microdontia, Widely spaced teeth, Abnormal hair morphology |
OMIM:190320 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Microspherophakia-Metaphyseal Dysplasia |
|
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma |
OMIM:157151 |
Uveal Melanoma |
|
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
Neovascular Glaucoma |
|
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... |
ORPHA:94058 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... |
ORPHA:364055 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Subcapsular cataract, Ataxia, Dysmetria, Rod-cone dystrophy, Optic atrophy, Cataract, Achilles te... |
OMIM:612674 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Vacuolated ly... |
OMIM:204200 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
Pili Torti |
|
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... |
ORPHA:2889 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, Hy... |
ORPHA:436 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Premature loss of teeth, Generalized reticulate brown pigmentation, Supernumerary tooth, Hypopigm... |
ORPHA:69087 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Tricho-Dento-Osseous Syndrome |
|
Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Fragile nails, Microdontia, Widely... |
ORPHA:3352 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... |
ORPHA:1946 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract, Joint hyperflexibility |
ORPHA:250984 |
Stickler Syndrome Type 1 |
|
Osteoarthritis, Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hyperflex... |
ORPHA:90653 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment |
OMIM:157150 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Retinal dystrophy |
OMIM:613763 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... |
ORPHA:2228 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... |
OMIM:613310 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Delayed pubic bone ossification, Retinal detachment, Cataract, Limited elbow extension |
ORPHA:1856 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Liberfarb Syndrome |
|
Delayed epiphyseal ossification, Retinal degeneration, Retinal pigment epithelial mottling, Optic... |
OMIM:618889 |
Joint Laxity, Short Stature, And Myopia |
|
Osteopenia, Iris coloboma, Retinal detachment, Chorioretinal coloboma |
OMIM:617662 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Osteoporosis, Iris hypopigmentation, Cataract... |
ORPHA:85194 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Irregular tarsal ossification, Anterior cortical cataract, Corne... |
OMIM:221800 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hypermobility |
OMIM:604841 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Peripapil... |
OMIM:616188 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnor... |
ORPHA:363417 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Genu varum, Sh... |
ORPHA:2501 |
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Optic disc pallor, Ataxia, Cerulean cataract |
OMIM:616732 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Idiopathic Uveal Effusion Syndrome |
|
Retinal fold, Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detac... |
ORPHA:209956 |
Trichodental Dysplasia |
|
Sparse hair, Hypodontia, Brittle hair, Conical tooth, Odontodysplasia, Fine hair, Slow-growing hair |
OMIM:601453 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... |
OMIM:300578 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Premature loss of primary teeth, Abnormal fingernail morphology, Fine hair, Abnormal to... |
ORPHA:248 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Coxa valga, Hypercalcemia |
OMIM:191420 |
Filippi Syndrome |
|
Hypertrichosis, Decreased body weight, Hypodontia, Sparse hair, Thin vermilion border, Cutaneous ... |
OMIM:272440 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Neurofibromatosis Type 2 |
|
Remnants of the hyaloid vascular system, Neuroma, Glioma, Bilateral vestibular schwannoma, Spinal... |
ORPHA:637 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Idiopathic Anterior Uveitis |
|
Nuclear cataract, Increased cup-to-disc ratio, Macular edema, Posterior subcapsular cataract, Pos... |
ORPHA:280914 |
Cataract, Ataxia, Short Stature, And Mental Retardation |
|
Ataxia, Posterior subcapsular cataract |
OMIM:300619 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Recurrent fractures, Hypophosphatemic rickets, Abnormality of finger, Abnormality of toe, Corneal... |
OMIM:163200 |
Oculotrichodysplasia |
|
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Sparse eyelashes, Sparse axillary... |
OMIM:257960 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Micrognathia, Cataract, Epiphyseal stippling |
OMIM:614882 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Infantile Myofibromatosis |
|
Bone cyst, Irregular hyperpigmentation, Gingival fibromatosis, Osteolysis, Hypercalcemia, Abnorma... |
ORPHA:2591 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Increased bone mineral density, Retinal detachment, Cataract, Delayed... |
ORPHA:163649 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
Kniest Dysplasia |
|
Laryngotracheomalacia, Delayed epiphyseal ossification, Joint stiffness, Flexion contracture of f... |
ORPHA:485 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Alopecia, Ridged nail, Carious teeth |
OMIM:614564 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Posterior subcapsular cataract, Hepatocellular carcinoma |
OMIM:616200 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Osteopenia, Flared metap... |
OMIM:619073 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Hypophosphatemia, Tooth mal... |
OMIM:156400 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... |
OMIM:313500 |
Knobloch Syndrome 1 |
|
Ataxia, Lens subluxation, Band keratopathy, Joint hypermobility, Chorioretinal atrophy, Retinal d... |
OMIM:267750 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Microcornea, Delayed eruption of teeth, Catar... |
OMIM:257850 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior cortical cataract, Ataxia, Cerulean cataract, Posterior subcapsular cataract, Limited el... |
ORPHA:67036 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Narrow mouth, Hypopigmentation of hair, Abnormal oral cavity morph... |
ORPHA:1355 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Low anterior hairline, Macroglossia, Small for gestational age, Oligodontia, Short ... |
OMIM:618440 |
Aniridia 1 |
|
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Chorioretinal hypopigmentat... |
OMIM:106210 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... |
OMIM:305390 |
Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Paget Disease Of Bone 2, Early-Onset |
|
Premature loss of teeth, Sclerosis of skull base, Short femur, Fractures of the long bones, Femor... |
OMIM:602080 |
Hypophosphatasia, Infantile |
|
Bowing of the legs, Failure to thrive, Metaphyseal cupping, Craniosynostosis, Elevated plasma pyr... |
OMIM:241500 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Hip contracture, Tracheomalacia, Retinal detachment, Gait distur... |
OMIM:156550 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia, Hypercalcemia |
OMIM:614732 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Stenosis of the medullary cavity of the... |
ORPHA:93324 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding |
OMIM:600907 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Alo... |
ORPHA:93160 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hyp... |
ORPHA:53 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Conical primary inciso... |
OMIM:602400 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... |
OMIM:152950 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding |
OMIM:616390 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification |
OMIM:125420 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair |
ORPHA:90023 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Exostoses, Splenomegaly, Hemangioma, Retinal detachment, Limbal dermoi... |
ORPHA:2969 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Spondyloocular Syndrome |
|
Osteopenia, Retinal detachment, Cataract |
OMIM:605822 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Cleft palate, Talon cusp, Brachydactyly, Syndactyly, Microdontia, Radioulnar s... |
OMIM:605282 |
Flynn-Aird Syndrome |
|
Joint stiffness, Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Catara... |
OMIM:136300 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Hypodontia, Patchy alopecia, Fragile nails, Carious teeth, Enamel hypoplas... |
OMIM:226650 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Fragile nails, Cataract |
ORPHA:254704 |
Pili Torti, Early-Onset |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:261900 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Comedonal acne, Peripheral retinal atrophy, Microcornea, Retinal dystrophy,... |
OMIM:615147 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, Advanced eruption of teeth |
ORPHA:2266 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Laryngotracheomalacia, Delayed ossification of carpal bones, Osteopenia, Posterior subcapsular ca... |
OMIM:271510 |
Senior-Loken Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrop... |
ORPHA:3156 |
Mucopolysaccharidosis Type 4 |
|
Wide mouth, Corneal opacity, Reduced bone mineral density, Abnormality of the dentition, Grayish ... |
ORPHA:582 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Failure to thrive, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndact... |
ORPHA:476126 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, En... |
ORPHA:94089 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Alport Syndrome |
|
Diffuse leiomyomatosis, Nephritis, Macular degeneration, Recurrent corneal erosions, Posterior su... |
ORPHA:63 |
Brittle Cornea Syndrome |
|
Corneal scarring, Retinal detachment, Osteoporosis, Camptodactyly, Gait disturbance, Corneal eros... |
ORPHA:90354 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Bilateral camptodactyly, Joint laxity, Posterior subcapsular cataract, Astigmatism |
OMIM:619234 |
Alstrom Syndrome |
|
Subcapsular cataract, Chronic active hepatitis, Nephritis, Otitis media, Pigmentary retinopathy, ... |
OMIM:203800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Cataract |
OMIM:615181 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Acrootoocular Syndrome |
|
Anodontia, Short toe, Dental malocclusion, Supernumerary tooth, Abnormal finger flexion creases, ... |
ORPHA:2980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Retinal detachment, Cataract |
OMIM:613153 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Microcornea |
ORPHA:627 |
Pyle Disease |
|
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Delayed eruption of te... |
OMIM:265900 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Wide mouth, Constricted iliac wing, Metaphysea... |
OMIM:253010 |
Hypophosphatemic Rickets |
|
Joint stiffness, Failure to thrive, Hypophosphatemia, Fibrous dysplasia of the bones, Multiple ca... |
ORPHA:437 |
Adamantinoma |
|
Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Usher Syndrome Type 2 |
|
Microdontia, Carious teeth, Iris hypopigmentation, Abnormality of dental color, Cataract, Abnorma... |
ORPHA:231178 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Hypervitaminosis A, Susceptibility To |
|
Alopecia totalis, Hypercalcemia |
OMIM:240150 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia, Oligodontia of primary teeth, Microdontia, Abnormal fingernail morphology, Abnormal ... |
OMIM:604625 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Ataxia, Retinal degeneration, Craniosynostosis |
OMIM:225755 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... |
OMIM:617994 |
Stickler Syndrome, Type I |
|
Membranous vitreous appearance, Joint stiffness, Joint hypermobility, Osteoarthritis, Retinal det... |
OMIM:108300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... |
ORPHA:289157 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Clark-Baraitser syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Widely-spa... |
OMIM:300602 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Corneal opacity, Flexion contracture, Generalized joint laxity, Exos... |
ORPHA:536471 |
Griscelli Syndrome, Type 2 |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:607624 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Sturge-Weber Syndrome |
|
Abnormal retinal vascular morphology, Retinal detachment, Conjunctival telangiectasia, Abnormal c... |
ORPHA:3205 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Glossitis, Catarac... |
OMIM:175500 |
Cataract 17, Multiple Types |
|
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea |
OMIM:611544 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Incontinentia Pigmenti |
|
Keratitis, Corneal opacity, Skin rash, Retinal vascular proliferation, Eosinophilia, Retinal deta... |
ORPHA:464 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... |
OMIM:141300 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Cleft palate, Small for gestationa... |
ORPHA:1617 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Retinal degeneration, Limb ataxia, Optic atrophy, Gait ataxia |
OMIM:614322 |
Liang-Wang Syndrome |
|
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... |
OMIM:618729 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Short nail, Slow-growing nails, Abnormality of the dentiti... |
ORPHA:1811 |
Atkin-Flaitz Syndrome |
|
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Tapered finger, Widely-spa... |
OMIM:300431 |
Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypodontia, Brachydactyly, Mac... |
OMIM:263540 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Talipes equinovarus, Small for gestational age, Congenital bilateral hip dislocation, ... |
ORPHA:85288 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemi... |
OMIM:103580 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Nail dysplasia, Anodontia, Sparse hair, Supernumerary nipple, Enamel hypoplasia, Nail dystrophy, ... |
OMIM:275450 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Decreased movement range in interphalangeal joints, Elevated circulating creatine kinase concentr... |
OMIM:609115 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Advanced ossification of carpal bones, Tooth agenesis, Microretrogn... |
OMIM:618363 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Iritis, Retinal detachment, Autoimmune thrombocytopenia, Retinal vasculitis, Central r... |
OMIM:107320 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Retinal degeneration, Flexion contracture, Macular degeneration, Optic atrophy |
OMIM:256730 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Zonular cataract, Flexion contracture, Leukopenia, Choreoathetosis, Cataract, Recurrent p... |
OMIM:616271 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger... |
ORPHA:1515 |
Nance-Horan Syndrome |
|
Mulberry molar, Broad finger, Short phalanx of finger, Posterior Y-sutural cataract, Microcornea,... |
OMIM:302350 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Congenital Primary Aphakia |
|
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... |
ORPHA:83461 |
Chanarin-Dorfman Syndrome |
|
Subcapsular cataract, Ataxia |
OMIM:275630 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Myotonic Dystrophy 2 |
|
Iridescent posterior subcapsular cataract, Posterior subcapsular cataract |
OMIM:602668 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Marshall Syndrome |
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Macrodontia of permanent maxillary central incisor, Cleft palate, Clinodactyly of the 4th finger,... |
OMIM:154780 |
Pseudohypoparathyroidism, Type Ic |
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Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Hypocalcemic tetany, C... |
OMIM:612462 |
Mucopolysaccharidosis, Type Iva |
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Pointed proximal second through fifth metacarpals, Wide mouth, Constricted iliac wing, Metaphysea... |
OMIM:253000 |
Sjögren-Larsson Syndrome |
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Joint stiffness, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Corneal ... |
ORPHA:816 |
Phacoanaphylactic Uveitis |
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Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... |
ORPHA:209959 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
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Failure to thrive, Small for gestational age, Cataract, Arthrogryposis multiplex congenita, Hip d... |
OMIM:212540 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
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Sparse scalp hair, High anterior hairline, Notched primary central incisor |
OMIM:620062 |
Familial Isolated Hyperparathyroidism |
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Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia |
ORPHA:99879 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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High palate, Failure to thrive, Flexion contracture, Osteopenia, Micrognathia, Short humerus, Rhi... |
OMIM:222765 |
Cataract 33, Multiple Types |
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Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
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Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Autosomal Dominant Hypophosphatemic Rickets |
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Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Tooth abscess, Rickets |
ORPHA:89937 |
Retinal Dystrophy With Or Without Macular Staphyloma |
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Nuclear cataract, Retinal dystrophy |
OMIM:617547 |
Blue Diaper Syndrome |
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Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Oculofaciocardiodental Syndrome |
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Flexion contracture of the 2nd toe, Retinal detachment, Flexion contracture of the 4th toe, Micro... |
ORPHA:2712 |
Intellectual Disability And Myopathy Syndrome |
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Dental malocclusion, Congenital hip dislocation, Limited elbow extension, Incisor macrodontia, Ca... |
OMIM:619719 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
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Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Radio... |
ORPHA:2725 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
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Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Cataract 8, Multiple Types |
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Nuclear cataract, Developmental cataract |
OMIM:115665 |
Hypercalcemia, Infantile, 2 |
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Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Tricho-Retino-Dento-Digital Syndrome |
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Abnormality of retinal pigmentation, Supernumerary tooth, Sparse hair, Abnormality of the dentiti... |
ORPHA:1264 |
Werner Syndrome |
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Retinal degeneration, Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis, Osteos... |
OMIM:277700 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
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Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... |
ORPHA:2325 |
Gigantiform Cementoma, Familial |
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Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Cataract |
OMIM:254000 |
Macular Dystrophy, Retinal, 2 |
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Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Retinitis Pigmentosa 74 |
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Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Cataract 22, Multiple Types |
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Nuclear cataract, Developmental cataract |
OMIM:609741 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
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Malar flattening, Cleft palate, Small hand, Abnormal hand morphology, Cataract, Short foot |
OMIM:300261 |
Intellectual Disability, Birk-Barel Type |
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High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion contractures, Broad ... |
ORPHA:166108 |
Osteopetrosis, Autosomal Recessive 1 |
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Coxa vara, Failure to thrive, Osteomyelitis, Hypocalcemia, Increased bone mineral density, Cranio... |
OMIM:259700 |
Chorioretinal Atrophy, Progressive Bifocal |
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Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Ataxia, Retinal detachment, Optic atrophy, Distal arthrogryposis, Cataract |
OMIM:619833 |
Oculoauricular Syndrome |
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Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... |
OMIM:612109 |
Pseudopseudohypoparathyroidism |
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Brachydactyly, Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Cataract, Obesity, Sho... |
OMIM:612463 |
Mucolipidosis Iv |
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Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration |
OMIM:252650 |
Central Retinal Vein Occlusion |
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Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Cataract 9, Multiple Types |
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Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Classic Homocystinuria |
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Joint stiffness, Recurrent fractures, Abnormality of retinal pigmentation, Retinal detachment, Os... |
ORPHA:394 |
Myopathy, Tubular Aggregate, 2 |
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Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:615883 |
Cataract 2, Multiple Types |
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Developmental cataract, Nuclear cataract, Microcornea |
OMIM:604307 |
Vitamin D-Dependent Rickets, Type 2A |
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Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:277440 |
Rhizomelic Chondrodysplasia Punctata |
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Alopecia, Sparse body hair, Abnormality of the dentition, Limb undergrowth, Rhizomelia, Abnormal ... |
ORPHA:177 |
Kohlschutter-Tonz Syndrome-Like |
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2-3 toe syndactyly, Thick eyebrow, Decreased body weight, Small hand, Delayed eruption of teeth, ... |
OMIM:619229 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Sjogren-Larsson Syndrome |
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Macular degeneration, Flexion contracture, Opacification of the corneal epithelium, Retinal thinn... |
OMIM:270200 |
Cataract 6, Multiple Types |
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Posterior polar cataract, Choroideremia, Developmental cataract |
OMIM:116600 |
Isolated Aniridia |
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Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Vitreoretinopathy, Neovascular Inflammatory |
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Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Bothnia Retinal Dystrophy |
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Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Oculocutaneous Albinism, Type Viii |
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Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
Mevalonic Aciduria |
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Ataxia, Progressive cerebellar ataxia, Nuclear cataract, Skin rash, Fluctuating splenomegaly, Leu... |
OMIM:610377 |
Kenny-Caffey Syndrome, Type 1 |
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Hypomagnesemia, Hypocalcemia, Small hand, Slender long bone, Carious teeth, Short foot, Calvarial... |
OMIM:244460 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
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Bone cyst, Hypercalcemia |
ORPHA:2668 |
Eem Syndrome |
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Sparse scalp hair, Ectrodactyly, Selective tooth agenesis, Abnormality of retinal pigmentation, A... |
ORPHA:1897 |
Hyperferritinemia With Or Without Cataract |
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Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
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Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Walker-Warburg Syndrome |
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Corneal opacity, Retinal detachment, Microcornea, Retinal dystrophy, Optic atrophy, Iris coloboma... |
ORPHA:899 |
Ophthalmomandibulomelic Dysplasia |
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Corneal opacity, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyl... |
ORPHA:2741 |
Atkin-Flaitz Syndrome |
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Thick vermilion border, Abnormality of the dentition, Maxillary lateral incisor microdontia, Ever... |
ORPHA:1193 |
Hypotrichosis 13 |
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Woolly hair, Sparse hair, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of denta... |
OMIM:615896 |
Florid Cemento-Osseous Dysplasia |
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Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... |
ORPHA:83451 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract, Retinal atrophy |
OMIM:616722 |
Porphyria, Congenital Erythropoietic |
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Corneal scarring, Hypertrichosis, Erythrodontia, Joint contracture of the hand, Absent eyebrow, A... |
OMIM:263700 |
Cataract 3, Multiple Types |
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Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract |
OMIM:601547 |
Anti-Glomerular Basement Membrane Disease |
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Anemia, Retinal detachment, Arthritis |
ORPHA:375 |
Odontoonychodermal Dysplasia |
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Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Hypodontia, Sparse eyebrow, Short... |
OMIM:257980 |
Cohen Syndrome |
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Macrodontia of permanent maxillary central incisor, High, narrow palate, Thick eyebrow, Small for... |
OMIM:216550 |
Teeth, Supernumerary |
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Supernumerary tooth, Mesiodens |
OMIM:187100 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Otodental Syndrome |
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Abnormal dental enamel morphology, Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of p... |
ORPHA:2791 |
Rubinstein-Taybi Syndrome 2 |
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High palate, Dental malocclusion, Hirsutism, Narrow palate, Retrognathia, Micrognathia, Syndactyl... |
OMIM:613684 |
Bietti Crystalline Dystrophy |
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Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Progressive Familial Intrahepatic Cholestasis |
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Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Macular Dystrophy, Vitelliform, 2 |
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Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Optic nerve hypoplasia, Megalocornea, Retinal detachment, Optic atrophy, Cataract, Abnormality ir... |
ORPHA:370959 |
Waardenburg Syndrome Type 2 |
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