Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth |
OMIM:615887 |
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 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
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 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta |
ORPHA:79129 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... |
ORPHA:179 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/... |
ORPHA:1006 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... |
ORPHA:251393 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... |
ORPHA:93296 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,... |
OMIM:619787 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration |
OMIM:615458 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... |
OMIM:300424 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Waddling gait, Retinal detachment, Corneal opacity, Osteoporosis, Abnor... |
ORPHA:2788 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Gyrate Atrophy Of Choroid And Retina |
|
Macular thickening, Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy |
OMIM:258870 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... |
ORPHA:1873 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular 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, Osteopathia striata, Abnormal pelvic girdle bone morphology, A... |
ORPHA:2779 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Abnormality of the dentition, Developmental cataract, Abnor... |
ORPHA:557003 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Schwannomatosis, Vestibular |
|
Astrocytoma, Ataxia, Bilateral vestibular schwannoma, Retinal hamartoma, Epiretinal membrane, Opt... |
OMIM:101000 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Bronchiectasis, Rod-cone dyst... |
OMIM:615434 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Onycholysis, Marked delay in eruption of permanent teeth, Yel... |
OMIM:104570 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... |
ORPHA:2222 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Loss of ambulation, Rod-co... |
OMIM:204200 |
Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails |
OMIM:190320 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Posterior subcapsular cataract, Cataract, Osteoporosis |
OMIM:616200 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Crani... |
ORPHA:436 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Rod-cone dystrophy, Achilles tendon contracture, Optic atrophy, Dysmetria, Subc... |
OMIM:612674 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Choroidal melanoma, Inferior lens subluxation, Abnormal fundus... |
ORPHA:39044 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflex... |
ORPHA:90653 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Cataract, Joint hyperflexibility, Vitreoretinopathy, Astigmatism |
ORPHA:250984 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Abnormal dental morphology, Abnormali... |
ORPHA:69087 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Cataract |
OMIM:615995 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... |
ORPHA:2228 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Delayed pubic bone ossification, Cataract, Limited elbow extension |
ORPHA:1856 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Joint hypermobility |
OMIM:604841 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Joint hyperflexibilit... |
ORPHA:85194 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... |
OMIM:221800 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia, Cerulean cataract |
OMIM:616732 |
Trichodental Dysplasia |
|
Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair |
OMIM:601453 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... |
ORPHA:248 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Full Nf2-Related Schwannomatosis |
|
Astrocytoma, Remnants of the hyaloid vascular system, Glioma, Bilateral vestibular schwannoma, Re... |
ORPHA:637 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Posterior subcapsular cataract, Ataxia |
OMIM:300619 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormal hair morphology, Bone cyst, Limitation of joint mobility, Osteolysis, Gin... |
ORPHA:2591 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Epiphyseal stippling, Cataract, High palate, Micrognathia |
OMIM:614882 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talo... |
OMIM:613684 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Filippi Syndrome |
|
2-4 toe syndactyly, Hypertrichosis, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion bor... |
OMIM:272440 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Increased bone mineral density, Cataract, Delayed patellar ossification, Abno... |
ORPHA:163649 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Oste... |
ORPHA:2848 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In... |
OMIM:602080 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Spondyloocular Syndrome |
|
Osteopenia, Retinal detachment, Cataract, Posterior subcapsular cataract, Unsteady gait, Thin bon... |
OMIM:605822 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal c... |
OMIM:156400 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Recurrent fractures, Abnormal... |
OMIM:163200 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,... |
OMIM:614564 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... |
OMIM:619073 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cataract |
OMIM:268020 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Elbow flexion contracture, Low anterior hairline, Devel... |
OMIM:618440 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Kniest Dysplasia |
|
Hip contracture, Retinal detachment, Cataract, Tracheomalacia, Delayed epiphyseal ossification, L... |
OMIM:156550 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Ataxia, Band keratop... |
OMIM:267750 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, A... |
OMIM:241500 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Ataxia, Cerulean cataract, ... |
ORPHA:67036 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Abnormal oral cavity morphology, Narrow ... |
ORPHA:1355 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Cataract, Optic nerve hypoplasia, Flexion contracture, Epiphyseal stippling, Zonular ... |
OMIM:222765 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... |
ORPHA:93324 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Osteoporosis, Short metatarsal, Obesity, H... |
OMIM:612462 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... |
OMIM:257850 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener... |
ORPHA:53 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Osteomalacia, Recurrent fractures, Premature loss of primary teeth, Abnormality of the ... |
ORPHA:93160 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Hypero... |
ORPHA:2969 |
Eales Disease |
|
Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic... |
ORPHA:40923 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Morm Syndrome |
|
Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of th... |
OMIM:264700 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, Iris coloboma, Joint hypermobility, Chorioretinal coloboma |
OMIM:617662 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail dystrophy, Enamel hypopla... |
OMIM:226650 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem... |
OMIM:605282 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Ataxia, Joint stiffness, Osteoporosis, Increased bone d... |
OMIM:136300 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair |
ORPHA:2266 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Osteoporosis, Corneal scarring, Increased... |
ORPHA:90354 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thu... |
ORPHA:476126 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Jalili Syndrome |
|
Bone spicule pigmentation of the retina, Carious teeth, Retinal pigment epithelial mottling, Yell... |
OMIM:217080 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Retinal dystrophy, Abnormality of bone min... |
ORPHA:3156 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatemia, Short 5th f... |
ORPHA:79445 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Vacuolated lymphocytes, Flexion contracture, Optic atrophy, Macular degeneration, Retinal... |
OMIM:256730 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Usher Syndrome Type 2 |
|
Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Microdon... |
ORPHA:231178 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephri... |
OMIM:203800 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Joint laxity, Posterior subcapsular cataract, Astigmatism, Bilateral camptodactyly |
OMIM:619234 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity |
OMIM:613153 |
Alport Syndrome |
|
Diffuse leiomyomatosis, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, ... |
ORPHA:63 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Corneal opacity, Abnormal dental enamel morphology, Coxa valga, Grayish... |
ORPHA:582 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Small fo... |
ORPHA:2980 |
Nance-Horan Syndrome |
|
Microcornea, Retinal detachment, Cataract |
ORPHA:627 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Abnormally ossified vertebrae, Cataract, Osteoarthritis, Limitation of joint ... |
ORPHA:1427 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Shallow anterior chamber, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na... |
ORPHA:1811 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm... |
OMIM:604625 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal... |
OMIM:618392 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesit... |
OMIM:300602 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Posterior subcapsular cataract, Delayed ossification of carpal bones, Neutropenia, La... |
OMIM:271510 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Stickler Syndrome, Type I |
|
Retinal detachment, Cataract, Joint stiffness, Osteoarthritis, Arthritis, Vitreoretinopathy, Memb... |
OMIM:108300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, S... |
ORPHA:289157 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Mandibular prognathia, Corneal opacity, Joint stiffness, Epiphyseal deformities of ... |
OMIM:253010 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Cachexia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Nail dysp... |
OMIM:175500 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Corneal opacity, Joint hypermobility, Sagittal craniosyn... |
ORPHA:536471 |
Nance-Horan Syndrome |
|
Diastema, Developmental cataract, Microcornea, Posterior Y-sutural cataract, Mulberry molar, Broa... |
OMIM:302350 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Corneal opacity, Skin rash, Camptodactyly of finger, Eosinophilia, ... |
ORPHA:464 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Comedonal acne,... |
OMIM:615147 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Small for gestational age, Congenital bilateral hip dislocation, Talipes equinovarus, H... |
ORPHA:85288 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, High anterior hairline, Sparse scalp hair |
OMIM:620062 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
2Q24 Microdeletion Syndrome |
|
Cataract, Toe syndactyly, Camptodactyly of finger, Small for gestational age, Long fingers, Bulle... |
ORPHA:1617 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Short toe, Osteoporosis, Short metatarsal,... |
OMIM:103580 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Werner Syndrome |
|
Cataract, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Meningioma, Retina... |
OMIM:277700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph... |
OMIM:609115 |
Chanarin-Dorfman Syndrome |
|
Subcapsular cataract, Ataxia |
OMIM:275630 |
Myotonic Dystrophy 2 |
|
Posterior subcapsular cataract, Iridescent posterior subcapsular cataract |
OMIM:602668 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Ataxia, Flexion contracture, Recurrent pneumonia, Choreoathetosis, Leukopenia, Neutrope... |
OMIM:616271 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Micrognathia, High, na... |
ORPHA:166108 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl... |
OMIM:107320 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Alopecia, Delayed epiphyseal ossification, Rickets, ... |
OMIM:600785 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Cataract, Ataxia, Optic atrophy, Distal arthrogryposis |
OMIM:619833 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Joint stiffness, Corneal erosion, Macular degeneration, Reti... |
ORPHA:816 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai... |
ORPHA:2325 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Flexion contracture of the 4th toe, Microcornea, Ra... |
ORPHA:2712 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract, Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening |
OMIM:300261 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Mandibular prognathia, Coxa valga, Epiphyseal deformities of tubular bones, Grayish... |
OMIM:253000 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Carious teeth, F... |
OMIM:259700 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Short metatarsal, Blue irides, Advanced ossification of ... |
OMIM:614613 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Exudative retinal detachment, Retinal fold, Subretinal ... |
ORPHA:209956 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Recurrent fractures, Joint sti... |
ORPHA:394 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont... |
ORPHA:1264 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract |
OMIM:616722 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... |
OMIM:221900 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Osteoporosis, Short metatarsal, Obesity, E... |
OMIM:612463 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Cortical subperi... |
ORPHA:94089 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of th... |
OMIM:277440 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia |
ORPHA:2668 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Skin rash, Ataxia, Fluctuating spleno... |
OMIM:610377 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Cataract, Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiph... |
ORPHA:177 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Absent eyebrow, Alopecia, Erythrodontia, Loss of eyelashes, Osteolysis, Corneal scarr... |
OMIM:263700 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal... |
OMIM:244460 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... |
OMIM:615145 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Limitation of joi... |
ORPHA:2741 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ... |
ORPHA:899 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe... |
OMIM:618363 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Arthritis, Anemia |
ORPHA:375 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract, Abnormal fingernail morphology, Abnormality of the dentition |
ORPHA:2278 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p... |
OMIM:257980 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Choroideremia, Developmental cataract |
OMIM:116600 |
Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Thick eyebrow, Sandal gap, Carious teeth, Overweight,... |
OMIM:619229 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Papillorenal Syndrome |
|
Joint laxity, Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpi... |
OMIM:120330 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Eem Syndrome |
|
Finger syndactyly, Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth... |
ORPHA:1897 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Iris coloboma |
ORPHA:2143 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... |
ORPHA:2791 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Craniosynostosis, Mi... |
ORPHA:369837 |
Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:2409 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Vacuolated lymphocytes, Dysmetria, Dysdiadochokinesis, Loss of ambulation, Retinal degene... |
OMIM:256731 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Cataract, Short metacarpal... |
ORPHA:79444 |
Cohen Syndrome |
|
Short metacarpal, Bone spicule pigmentation of the retina, Thick eyebrow, Small for gestational a... |
OMIM:216550 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Optic disc hypoplasia, Macular atrophy, Thrombocytopenia, Ret... |
ORPHA:448237 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Retinal detachment, Distal joint laxity, Generalized joint laxity, Recurrent pneumoni... |
ORPHA:1900 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin... |
OMIM:255800 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Knobloch Syndrome 2 |
|
Retinal detachment, Vitreoretinopathy, Anterior cortical cataract, Vitreous floaters |
OMIM:618458 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology, ... |
ORPHA:177910 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Recurrent fractures, Hypercalcemia, Craniosynostosis, Obesity,... |
ORPHA:251004 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormal... |
ORPHA:2323 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Gracile Bone Dysplasia |
|
Failure to thrive, Flared metaphysis, Slender long bone, Hypocalcemia, Aniridia, Decreased skull ... |
OMIM:602361 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Osteoarthritis, Abnormal vitreous humor morphology,... |
ORPHA:560 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Retinal degeneration |
OMIM:204500 |
Smith-Magenis Syndrome |
|
Retinal detachment, Joint stiffness, Microcornea, Gait disturbance, Chronic otitis media |
ORPHA:819 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... |
OMIM:615986 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Astigmatism, Widely... |
OMIM:618067 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Cleft palate, Thin vermilion border, Long eyelashes, Long philtrum, Incisor macrodo... |
OMIM:615502 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Ataxia, Macular coloboma, Macular atrophy, Geographic atrophy, Retin... |
OMIM:619260 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Tortuosity of conjunctival vessels, Dysmetria, Limb ataxia, Progressive cerebellar atax... |
ORPHA:284289 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:69077 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormality of the dentit... |
ORPHA:573 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Cataract |
OMIM:614876 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract |
OMIM:613763 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Tracheomalacia |
OMIM:620155 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th... |
OMIM:190351 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Failure to thrive, Abnormal denta... |
ORPHA:3019 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Hypophosphatasia, Childhood |
|
Elevated plasma pyrophosphate, Premature loss of primary teeth, Craniosynostosis, Carious teeth, ... |
OMIM:241510 |
Cerebellofaciodental Syndrome |
|
Cataract, Tapered finger, Sparse eyebrow, Dental malocclusion, Shortening of all distal phalanges... |
OMIM:616202 |
Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Cataract, Macular hypopigmented whorls, streaks, and patches, Thick lower l... |
OMIM:300337 |
Wilson-Turner Syndrome |
|
Thin upper lip vermilion, Cataract, Micrognathia, Tapered finger, Malar prominence, Small hand, S... |
ORPHA:3459 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Delayed ... |
ORPHA:168549 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Cataract, Abnormal dental ename... |
ORPHA:886 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Monosomy 13Q34 |
|
Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hor... |
ORPHA:96168 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Recurrent pneumonia, Optic atrophy, Rod-cone dystrophy, Re... |
OMIM:602271 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... |
OMIM:619795 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra... |
ORPHA:666 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Maculopapular exanthema, Eosinophilia, Ker... |
OMIM:308300 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Sparse hair, Microdontia, Juv... |
ORPHA:2909 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Micrognathia, Tapered finger, Thin vermilion border, Hypocalcemia, Long phi... |
ORPHA:1438 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Joint hyperflex... |
ORPHA:1571 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany... |
ORPHA:79443 |
Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, White eyelashes, Whi... |
ORPHA:894 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Joint hypermob... |
ORPHA:2714 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Failure to thrive, Cataract, Small for gestational age, Rocker bottom ... |
OMIM:214150 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Recurrent fractures, Hypercalcemia, Hypophosphatemia, Failure to thrive, Metaphyseal ... |
OMIM:239200 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal granulocyte morphology, Subcapsular cataract, Ataxia, Difficulty walking |
ORPHA:98907 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Cataract, Toe syndactyly, Reduced bone mineral density, Abno... |
ORPHA:2611 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Tapered finger, Abnormal hair morphol... |
ORPHA:317 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Retinal detachment, Delayed ossification of carpal bones, Distal ulnar epiphyseal stippling |
OMIM:609616 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Cataract, Micrognathia, Thick lower lip vermilion, Low anterior hairline, Widely-spaced maxillary... |
OMIM:608227 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ... |
OMIM:615704 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail |
OMIM:601319 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Down-sloping shoulders, Carious teeth, Synophrys, Joint hype... |
ORPHA:1390 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... |
ORPHA:2334 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of... |
ORPHA:88630 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opa... |
ORPHA:61 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Cataract, Ataxia, Retinal degeneration |
OMIM:266500 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Micrognathia, Elbow f... |
OMIM:618156 |
Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Generalized hirsutism, Hypocalcemia, Anonychia, Short distal phalanx of finger, Brachyd... |
ORPHA:1563 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Iris coloboma |
OMIM:222448 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Erythrodontia, Abnormal circulating porphyrin concentration, Scarring alopecia of sca... |
ORPHA:95159 |
Scheie Syndrome |
|
Corneal opacity, Retinal degeneration |
OMIM:607016 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr... |
OMIM:236670 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract, Broad hallux, High, narrow palate, Hypermobility of interphalangeal joints, Malar flatt... |
ORPHA:3433 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosp... |
OMIM:241410 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypoca... |
ORPHA:36913 |
Renpenning Syndrome |
|
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Cataract, Macrodontia, Cachexia, ... |
ORPHA:3242 |
Galactokinase Deficiency |
|
Nuclear cataract, Cataract, Hepatosplenomegaly |
ORPHA:79237 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Punctate cataract, Optic atrophy, Posterior Y-sutural cataract, Capilla... |
OMIM:607812 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... |
ORPHA:3214 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ... |
ORPHA:289 |
Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Rickets, Corneal scarring, Developmental cataract, Patholo... |
OMIM:309000 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe... |
ORPHA:73263 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ab... |
ORPHA:93323 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Flexion contracture, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment |
ORPHA:436182 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia, Weight loss |
ORPHA:97289 |
Metatropic Dysplasia |
|
Cataract, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness,... |
ORPHA:2635 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Hypocalcemia, Widely spaced teeth, Microdontia, Sparse hair, An... |
OMIM:218330 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Hip disloc... |
OMIM:203550 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Sparse hair, Juvenile cataract, Short ... |
ORPHA:221016 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Hyperpigmentation of the skin, Hypoplasia of the maxilla... |
ORPHA:50814 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Abnorma... |
ORPHA:166011 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Failure to thrive, Hypercalcemia, Hyperkalemia, Weight loss, Hyperuricemia, General... |
ORPHA:199299 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Recurrent skin infections, Craniosynostosis, Generalized joint laxity, Astigm... |
ORPHA:2953 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Failure to thrive, Conjugated hyperbilirubinemia, Gingival overgrowth, High palate, F... |
OMIM:269920 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Psoriasiform dermatitis, Vitreous haze, Band keratopathy, Epiretinal ... |
ORPHA:279914 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Capillary hemangioma, Leukocoria, Reduced bone mineral density |
ORPHA:1556 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Retinal detachment, Limited elbow movement, Vitreoretinopathy, Limited hip movemen... |
OMIM:183900 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Retinal detachment, Abnormally ossified vertebrae, Limited elbow movement, Osteopo... |
ORPHA:94068 |
X-Linked Agammaglobulinemia |
|
Alopecia, Sinusitis, Osteomyelitis, Hypopigmented skin patches, Weight loss, Arthritis, Glossopto... |
ORPHA:47 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Cataract, Rhizomelia, Proximal placement of thumb, Micrognathia, Downtu... |
ORPHA:93267 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Hypopigmentation of the skin, Abnormality of hair texture, De... |
OMIM:601957 |
Leber Congenital Amaurosis 4 |
|
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Microdontia, Sparse hair, Juvenile cataract, Short phalanx of fi... |
ORPHA:221008 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Delayed eruption of teeth, Hypoplastic iliac wing, Narrow mouth, Small hand, Gingival... |
OMIM:235510 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Keratoconus, Joint laxity, Retinal detachment, Recurrent pneumonia, Osteoporosis, Mic... |
OMIM:225400 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Developmen... |
OMIM:127000 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Ataxia, Retinal degeneration |
ORPHA:3363 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:158900 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Abnormality of the dentitio... |
OMIM:129500 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Overtubulated long bones, High palate, Absent fingernail, Bifid uvula, Supernumerar... |
ORPHA:3473 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Weight loss, Increased circulati... |
ORPHA:95409 |
Marfan Syndrome |
|
Osteopenia, Retinal detachment, Flat cornea, Arthralgia/arthritis, Limited elbow movement, Ectopi... |
ORPHA:558 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
ORPHA:2526 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cataract, Osteoporosis, Squamous cell carcinoma, Microcornea, Basal cell carcinoma, Zonular catar... |
OMIM:268400 |
Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Retina... |
OMIM:252600 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Cerebellar-Facial-Dental Syndrome |
|
Cataract, Foot joint contracture, Micrognathia, Tapered finger, Sparse eyebrow, Dental malocclusi... |
ORPHA:444072 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, B... |
OMIM:132450 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Abnormal distal phalanx morphology of finger, Micrognathia, Ulnar deviation of finger, ... |
ORPHA:1387 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Partial albinism, Camptodactyly of finger, Synophrys, Blue irides, Hypopig... |
OMIM:148820 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ... |
ORPHA:175 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Flexion contracture, Retinal degeneration |
OMIM:615249 |
Addison Disease |
|
Hyponatremia, Failure to thrive, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Weight loss, ... |
ORPHA:85138 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract |
OMIM:146200 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Long eyelashes, Hypocalcemia |
ORPHA:163693 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hypopigmentation of the skin, Erythrodontia, Abnormal circulating porphyrin concentra... |
ORPHA:79277 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Joint laxity, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, ... |
OMIM:229200 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive, Cataract, Congenital hip dislocation, Toe syndactyly, Super... |
ORPHA:217346 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Aicardi Syndrome |
|
Retinal detachment, Cataract, Block vertebrae, Chorioretinal lacunae, Recurrent pneumonia, Optic ... |
OMIM:304050 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Baralle-Macken Syndrome |
|
Cataract, Tapered finger, High, narrow palate, Obesity, Cafe-au-lait spot, Hirsutism |
OMIM:619255 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Camptodactyly of finger, Micrognathia, Malar prominence, Osteoporosis, Microcornea, Lon... |
ORPHA:48431 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... |
ORPHA:33364 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Joint hypermobility |
OMIM:608895 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Micrognathia, D... |
OMIM:610756 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Joint hypermobility, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rh... |
ORPHA:85410 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Developmental cataract, Cont... |
OMIM:616716 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Metaphysea... |
OMIM:618476 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Cataract, Ataxia, Hepatosplenomegaly, Stomatocytosis, Zonular cataract |
ORPHA:168577 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Ataxia, Inability to walk, Splenomegaly, Nuclear cataract, Stomatocyt... |
OMIM:608885 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Conical tooth, Persistence of primary teeth, Scarring alopeci... |
OMIM:618727 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Down-sloping shoulders, Micrognathia, Knee flexion contracture, Astigmatism, Widely spa... |
OMIM:619694 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Micrognathia, Microcornea, Iris transillumination defec... |
OMIM:617306 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Cronkhite-Canada Syndrome |
|
Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, Cachexia, Tape... |
ORPHA:2930 |
Martsolf Syndrome 2 |
|
Cataract, Overlapping toe, Camptodactyly of finger, Developmental cataract, Camptodactyly, Decrea... |
OMIM:619420 |
Stickler Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Osteoarthritis, Abnormal vitreous humor morphology,... |
ORPHA:828 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va... |
OMIM:608940 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... |
OMIM:144750 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr... |
OMIM:241530 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Hypoplastic toenail... |
ORPHA:904 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hypopigmentation of hair, Obesity, Wide mouth, Hypopigmentation of the ski... |
ORPHA:411515 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... |
ORPHA:364577 |
Alpha-Heavy Chain Disease |
|
Alopecia, Hypocalcemia |
ORPHA:100025 |
Frontonasal Dysplasia 1 |
|
Cataract, Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic fr... |
OMIM:136760 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Carious teeth, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Failure to thrive |
OMIM:226700 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Flexion contracture, Ataxia, Sutural cataract |
OMIM:201470 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Hypopigm... |
ORPHA:53271 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Keratitis, Carious teeth, Scarring alopecia of scalp, Spars... |
OMIM:612843 |
Short Syndrome |
|
Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal dental enamel morphology, Abnormality ... |
ORPHA:3163 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract, Dysmetria |
OMIM:619780 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Small for gestation... |
OMIM:607143 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Stiff Skin Syndrome |
|
Retinal detachment, Limitation of joint mobility |
ORPHA:2833 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... |
OMIM:239000 |
Flynn-Aird Syndrome |
|
Alopecia, Cataract, Cachexia, Joint stiffness, Carious teeth, Bone cyst |
ORPHA:2047 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Retinal dystrophy, Tubulointerstitial nephritis, Macular degeneration, Rod-cone dystr... |
OMIM:616629 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Brain neoplasm, Choroidal melanoma, Inability to walk, Posterior subcapsul... |
ORPHA:273 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Brittle hair, Micrognathia, Microcornea, Clinodactyly of the 5th finger, S... |
ORPHA:2710 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Recurrent fractures, Ricket... |
OMIM:268315 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Axillary freckling, Cafe-au-lait spot, Hypercalcemia |
OMIM:171420 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Astigmatism, Macular atrophy |
OMIM:610356 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding, Albinism |
OMIM:614072 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Cataract, Congenital hip dislocation, Epiphyseal dysplasia,... |
OMIM:617913 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Cataract, Elevated circulating hexacosanoic acid concentration, Epiphyseal stippling, Elevated ci... |
OMIM:614872 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Macular degeneration, Tip-toe gait, Spastic gait, Retinal degeneration |
OMIM:604360 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Hyperprote... |
ORPHA:29073 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Cataract, Corneal opacity, Ataxia, Joint stiffness, Splenomegaly, Flex... |
ORPHA:581 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... |
ORPHA:2221 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... |
OMIM:129400 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Hurler Syndrome |
|
Corneal opacity, Joint stiffness, Splenomegaly, Cranial hyperostosis, Flexion contracture, Hepato... |
OMIM:607014 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism |
OMIM:612526 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Absent fingernail, Synostosis... |
ORPHA:3258 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Unsteady gait, Retinal degeneration |
OMIM:520000 |
Smith-Magenis Syndrome |
|
Retinal detachment |
OMIM:182290 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... |
OMIM:186500 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Osteoporosis, Rickets, Weight loss, Recurrent aphthous stomatitis, Hypocalcemia, Stomat... |
OMIM:212750 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypoplasia, Brachyda... |
ORPHA:2643 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Ca... |
OMIM:269300 |
Pheochromocytoma |
|
Cafe-au-lait spot, Hypercalcemia, Developmental cataract |
OMIM:171300 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Abnormality of hair texture, Synophrys, Abnormality of de... |
ORPHA:73223 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... |
ORPHA:453510 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... |
OMIM:206920 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Failure to thrive, Cataract, Rhizomelia, Bowing of the legs, Coxa valga, Micrognath... |
OMIM:617164 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum |
OMIM:613312 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del... |
OMIM:620099 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Metatarsus addu... |
ORPHA:2557 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Slender build, Narrow palate, Short upper lip, Thick vermili... |
ORPHA:364028 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Tented upper lip vermilion, Long eyelashes, Hypocalcemia |
OMIM:606407 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, ... |
OMIM:249270 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Clinodac... |
ORPHA:363611 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... |
ORPHA:289176 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Abnormality of the dentition, Absent eyelashes, ... |
ORPHA:90153 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteo... |
ORPHA:763 |
Alg12-Cdg |
|
Retinal detachment, Recurrent pneumonia, Abnormal bone ossification, B lymphocytopenia, Chronic r... |
ORPHA:79324 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Juvenile cataract, Rod-cone dystrophy |
ORPHA:436245 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Congenital hip dislocation, Joint hypermobility, Low plasma citrulline, Hip dislocation... |
OMIM:219150 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Retinal degeneration |
OMIM:257970 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Camptodactyly of finger, Band keratopat... |
OMIM:186580 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Gingival o... |
OMIM:259720 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Osteopenia, Bull's eye maculopathy, Acanthocytosis, Fractures of the long bones, Optic atrophy, C... |
ORPHA:157850 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... |
ORPHA:667 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Cheilitis, Obesi... |
ORPHA:247353 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Micrognathia, Postaxial hand polydactyly, Alveolar ridge overgrowth, Cl... |
OMIM:235255 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia... |
ORPHA:2831 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Optic atrophy, Retinal degeneration |
OMIM:300438 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Premature graying of hair, Clinodactyly of the 5th finger, Micro... |
OMIM:194050 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Brachydactyly, Cataract, Multiple joint contractures, Selective tooth agenesis, Alope... |
ORPHA:2959 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Delayed os... |
OMIM:602471 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Dental crowding, Micrognathia, Narrow mouth, Hyperlipidemia, Flexion cont... |
OMIM:608612 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Cataract, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphys... |
OMIM:614376 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Low anterior hairli... |
ORPHA:800 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior hairline, High palate,... |
OMIM:212720 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Submucous cleft hard pal... |
ORPHA:2804 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Oculodentodigital Dysplasia |
|
Dry hair, Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger... |
OMIM:164200 |
Pycnodysostosis |
|
Ridged nail, Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinu... |
OMIM:265800 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Aspiration pneumonia, Loss of ambulation, Retinal dege... |
ORPHA:79264 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Finger syndactyly, Alope... |
ORPHA:3253 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular degeneration, Pigmentary retinop... |
OMIM:164500 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Astigmatism, Gait disturbance, Retinal degeneration |
ORPHA:168491 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Corneal opacity, Ankle flexion contracture, Astigmatism, G... |
ORPHA:464311 |
Shox-Related Short Stature |
|
Micrognathia, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, High palate, ... |
ORPHA:314795 |
Marinesco-Sjögren Syndrome |
|
Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morpho... |
ORPHA:559 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cataract, Hip dislocation, Genu valgum, Developmental cataract, Narrow mouth, Thick eyebrow |
ORPHA:436174 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Harrod Syndrome |
|
Cataract, Arachnodactyly, Dental malocclusion, Hypopigmented skin patches, Abnormal shoulder morp... |
ORPHA:2115 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Retinal detachment, Rieger anomaly, Primary congenital glaucoma |
ORPHA:521445 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Tapered finger, Spotty hyp... |
ORPHA:1867 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Optic atrophy, Uveitis, Arthritis... |
ORPHA:575 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow,... |
ORPHA:35173 |
Cinca Syndrome |
|
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly, Uveitis, Redu... |
ORPHA:1451 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:276621 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Galactose Mutarotase Deficiency |
|
Failure to thrive, Cataract, Hypergalactosemia |
ORPHA:570422 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Hypercalcemia, Weight loss |
ORPHA:29072 |
Dent Disease |
|
Cataract, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bon... |
ORPHA:1652 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Patchy osteosclerosis, Diaphyseal... |
OMIM:112250 |
Hemochromatosis, Type 4 |
|
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoart... |
OMIM:606069 |
Parathyroid Carcinoma |
|
Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Mandibular pain |
ORPHA:143 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Abnormal palate morphology, Genu valgum |
ORPHA:1381 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Elevated 8-dehydro... |
OMIM:302960 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Cataract, Micrognathia, High, narrow p... |
ORPHA:2780 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Tapered finger, Keratitis, Micrognathia, Narrow mouth, Carious teeth, Elbow flexion contracture, ... |
OMIM:272430 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Hyperconvex fingernails, High palate, Widely spaced teeth, Advanced er... |
ORPHA:192 |
Marfan Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microspherophakia, Premature osteoarthritis, Flexio... |
OMIM:154700 |
Cysticercosis |
|
Abnormal optic chiasm morphology, Retinal detachment, Stiff neck, Ataxia, Iridocyclitis, Choriore... |
ORPHA:1560 |
Timothy Syndrome |
|
Microdontia, Thin upper lip vermilion, Hypocalcemia, Cutaneous syndactyly |
OMIM:601005 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, ... |
ORPHA:744 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... |
ORPHA:251028 |
Farber Disease |
|
Corneal opacity, Thrombocytopenia, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthrit... |
ORPHA:333 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Cataract, Abnormal denta... |
ORPHA:1458 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Blotching pigmentation of ... |
OMIM:601559 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Arthrogryposis And Ectodermal Dysplasia |
|
Arthrogryposis multiplex congenita, Nuclear cataract, Joint contracture of the hand, Camptodactyly |
OMIM:601701 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Coarse hair, Joint contract... |
ORPHA:1883 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Developmental cataract |
OMIM:617044 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Retinal degeneration, Corneal opacity, Ataxia |
OMIM:272200 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ... |
ORPHA:238468 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Alg6-Cdg |
|
Rod-cone dystrophy, Ataxia, Retinal degeneration |
ORPHA:79320 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... |
OMIM:614700 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Dental crowding, Increased circulating free fatty acid level, Mic... |
ORPHA:2457 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Cataract, Arachnodactyly, Abnormal dental enamel morp... |
ORPHA:96169 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Cataract, Arachnodactyly, Carious teeth, Melanocytic nev... |
ORPHA:377 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cataract, Tapered finger, Short toe, Orofacial cleft, Joint hyperflexibility, Truncal obesity, Sp... |
ORPHA:127 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Arachnodactyly, White hair, Ocular albinism, Reduced bone mineral density, High palate,... |
ORPHA:2720 |
Ermine Phenotype |
|
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Astigmatis... |
ORPHA:999 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla... |
OMIM:108721 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul... |
OMIM:259710 |
Cockayne Syndrome Type 2 |
|
Ataxia, Flexion contracture, Uveitis, Developmental cataract, Conjunctivitis, Gait disturbance, D... |
ORPHA:90322 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Splenomegaly, Flexion contractur... |
ORPHA:90324 |
Prader-Willi Syndrome |
|
Osteopenia, Downturned corners of mouth, Short palm, Hypopigmentation of the skin, Iris hypopigme... |
OMIM:176270 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Hypoplasia of teeth, M... |
OMIM:234050 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, Downturned corners of ... |
ORPHA:79500 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Cataract, Ataxia, Retinal dystrophy, Hyperautofluorescen... |
OMIM:209900 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal sti... |
OMIM:118650 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Cataract, Brittle hair, Carious teeth, Developmental cataract, Eclabion, Tiger tail ... |
OMIM:616395 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Overla... |
OMIM:612394 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:2136 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Retinal detachment, Recurrent skin infections, Generalized joint laxity, Microcorne... |
OMIM:601776 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing |
OMIM:126550 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Short palm, Sparse hair, Joint contractur... |
OMIM:601812 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:98795 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Micrognathia... |
ORPHA:742 |
Trisomy 17P |
|
Broad eyebrow, Cataract, Micrognathia, Tapered finger, Flexion contracture, Orofacial cleft, Clef... |
ORPHA:261290 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, High pa... |
OMIM:211380 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Micrognathia, Postaxial hand polydactyly, Alveolar ridge overgrowth, Hi... |
ORPHA:1655 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Cockayne Syndrome |
|
Congenital contracture, Lentiglobus, Progressive gait ataxia, Retinal arteriolar constriction, Re... |
ORPHA:191 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Hip di... |
OMIM:616507 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypercalcemia, Mandibular pain, Hypophosphatemia |
ORPHA:99880 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity |
ORPHA:71526 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shape... |
OMIM:309350 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Oral mucosal blisters, Narrow mouth, Flexion contracture, Corneal scarring, C... |
OMIM:226600 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Craniosynostosis, Abnormality of the dentitio... |
ORPHA:251038 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Proximal placement of thumb, Micrognathia, Hypopl... |
OMIM:261540 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Generalized joint laxity, Delayed epiphyseal oss... |
ORPHA:93357 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Iridocyclitis, Unsteady gait, Limb ataxia, Gait disturbance, Difficulty walking,... |
ORPHA:412057 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Unsteady gait, Optic atrophy, Difficulty walking, Retinal degeneration |
ORPHA:442835 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... |
OMIM:234100 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Optic atrophy, Osteopetro... |
OMIM:612301 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rod-cone dystrophy, Retinal atrophy, Ataxia |
OMIM:610127 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,... |
OMIM:164745 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Rieger anomaly, Cataract, Delayed eruption of teeth, Small for ... |
OMIM:269880 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Cinca Syndrome |
|
Papilledema, Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia |
OMIM:607115 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Fine hair,... |
OMIM:601675 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... |
OMIM:223800 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Recurrent fractures, Elevated circulating creatine kinase concentration, Micro... |
ORPHA:2785 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Short metacarpal, Cataract, Block vertebrae, Tarsal synostosis, Bowed humerus, ... |
OMIM:272460 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely s... |
ORPHA:411511 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Reduced bone mineral density, Hyperphosphatemia, Hypoca... |
ORPHA:428 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Adult Syndrome |
|
Premature loss of permanent teeth, Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, S... |
OMIM:103285 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Increased bone mineral density, Cataract, Rhizomelia, Aplastic cla... |
ORPHA:50945 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Gingival overgrowth, Furrowed tongue, Fine hair, Sparse hair |
ORPHA:1839 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Oro... |
ORPHA:3440 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Retinal degeneration |
ORPHA:542306 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned co... |
ORPHA:955 |
Dent Disease 1 |
|
Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... |
OMIM:149730 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Laryngeal papilloma, Splenomegaly, Hypereosinophilia, Thyroiditis, U... |
OMIM:617388 |
Branchio-Oculo-Facial Syndrome |
|
Cataract, Preaxial hand polydactyly, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Micro... |
ORPHA:1297 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp... |
ORPHA:580 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Conjunctival whitish salt-like deposits, Hyperostosis, Subperiosteal bone formation, ... |
OMIM:211900 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased body weight, Failure to thrive, Decreased serum iron, Carious teeth, Narrow mouth, Corn... |
ORPHA:89842 |
Down Syndrome |
|
Joint laxity, Cataract, Sandal gap, Protruding tongue, Abnormality of the dentition, Thick lower ... |
ORPHA:870 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Cataract, Hypercalcemia, Ankle flexion contracture, Craniosynostos... |
ORPHA:821 |
Poikiloderma With Neutropenia |
|
Joint laxity, Elevated circulating creatine kinase concentration, Micrognathia, Joint stiffness, ... |
OMIM:604173 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal optic chiasm morphology, Broad-based gait, Cataract, Ataxia, Retinal detachment, Astigma... |
ORPHA:268261 |
Hsd10 Disease, Infantile Type |
|
Optic atrophy, Choreoathetosis, Loss of ambulation, Rod-cone dystrophy, Retinal degeneration |
ORPHA:391428 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Sarcoidosis |
|
Alopecia, Cataract, Hyperpigmentation of the skin, Hypercalcemia, Bone cyst, Weight loss, Enlarge... |
ORPHA:797 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Dental malocc... |
OMIM:601552 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurrent pneumonia, L... |
OMIM:615122 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Abno... |
ORPHA:411634 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment |
ORPHA:3218 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Cataract,... |
OMIM:600373 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Hypopigme... |
ORPHA:177907 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Abnormality of the den... |
ORPHA:1806 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Arachnodactyly, Abnormal thumb morphology, L... |
ORPHA:2719 |
Cockayne Syndrome Type 1 |
|
Cataract, Ataxia, Foot joint contracture, Optic atrophy, Uveitis, Pigmentary retinopathy, Conjunc... |
ORPHA:90321 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration, Anemia |
OMIM:613550 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesit... |
OMIM:615418 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Hypercalcemia, Prominent corneal nerve fibers, Abnormal tongue morphology, Thick ve... |
ORPHA:653 |
Nail-Patella Syndrome |
|
Ridged nail, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodactyl... |
OMIM:161200 |
Lelis Syndrome |
|
Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel... |
ORPHA:140936 |
Dystonia-Deafness Syndrome 1 |
|
Cataract, Hypoplastic scapulae, Small for gestational age, Femoral retroversion, Cleft upper lip,... |
OMIM:607371 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Rena... |
ORPHA:79474 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Cataract, Micrognathia, Brushfield spots, Metatarsus adductus, Cleft palate, P... |
OMIM:214110 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Cataract, Broad hallux, Dental crowding, Avascular necrosis of the cap... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Highly arched... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Highly arched... |
ORPHA:353277 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Cataract, Ataxia, Glomerulonephritis, Retinal pigment... |
ORPHA:64 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormal fi... |
ORPHA:3035 |
Carney Complex, Type 1 |
|
Palatine myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Conjunctivitis, Short philtrum, Sparse medial... |
OMIM:616268 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe s... |
OMIM:614099 |
Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Joint stiffness, Ectopia lentis, Ectopia pupillae, Malar flattening |
ORPHA:1885 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Ataxia, Splenomegaly, Lymphoma, Uveitis, Arthritis, Conjunctivitis, Infl... |
ORPHA:36412 |
Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Alo... |
ORPHA:1775 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Open... |
ORPHA:1974 |
Abetalipoproteinemia |
|
Retinopathy, Ataxia, Retinal degeneration, Acanthocytosis |
OMIM:200100 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Premature... |
OMIM:616353 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Short palm, Malar flattening, Short 1st metacarpal, Long... |
ORPHA:93328 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Abnormal pupil morphology, D... |
ORPHA:534 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Ataxia, Spastic gait, Retinal degeneration |
OMIM:270700 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Micrognathia, Hypoplastic frontal sinuses, Small hand, Cleft palate, Sh... |
OMIM:300712 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Mandibular prognathia, Hypopigmentation of hair, Protruding ton... |
ORPHA:98794 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Thick eyebr... |
ORPHA:585 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op... |
ORPHA:50 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Cataract, Osteoporosis |
OMIM:601811 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Retinal degeneration, Craniosynostosis |
ORPHA:166035 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Cataract, Developmental glaucoma, Flexion contracture, Osteoporosis, Elbow flexion co... |
OMIM:614438 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo... |
ORPHA:139471 |
Neu-Laxova Syndrome |
|
Osteopenia, Micromelia, Micrognathia, Flexion contracture, Pterygium, Bifid uvula, Osteomalacia, ... |
ORPHA:2671 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemo... |
ORPHA:790 |
Vici Syndrome |
|
Everted upper lip vermilion, Cataract, Median cleft lip, Elevated circulating creatine kinase con... |
OMIM:242840 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Sandal gap, Malar prominenc... |
ORPHA:2715 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Abnormal pupil morphology, ... |
ORPHA:233 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Flexion contracture, Developmental c... |
OMIM:300166 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Ataxia, Retinal dystrophy |
ORPHA:370022 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, M... |
OMIM:618150 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Gingival fibromatosis, Osteolysis, Increased susceptibility to fractures, Reduced ... |
ORPHA:652 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Seckel Syndrome 10 |
|
Retinal detachment, Acute pancreatitis, Elevated hemoglobin A1c |
OMIM:617253 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Chorioretinitis, Iritis, Hypopyon |
OMIM:109650 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Short metacarpal, Radial bowing, Club-shaped proxi... |
OMIM:108720 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Sh... |
OMIM:608328 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Cataract, Skin rash, Camptodactyly of finger, Kera... |
ORPHA:90340 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Micrognathia... |
ORPHA:284160 |
Corneodermatoosseous Syndrome |
|
Abnormal fingernail morphology, Corneal dystrophy, Abnormal dental enamel morphology, Carious tee... |
ORPHA:3194 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Tubulointerstitial nephritis, Posterior uveitis,... |
ORPHA:91500 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, High palate, Abnorm... |
ORPHA:861 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Thin upper lip vermilion, Rocker bottom foot, ... |
ORPHA:163979 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Carious teeth, Osteoporosis, Pterygium of nails, Reticular h... |
OMIM:224230 |
Cockayne Syndrome A |
|
Hip contracture, Cataract, Ataxia, Retinal atrophy, Splenomegaly, Retinal pigment epithelial mott... |
OMIM:216400 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Rhizomelia, Broad hallux, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Spa... |
OMIM:619016 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Joint stiffness, Ectopia lentis, Broad metatarsal, Hypoplasia of the maxilla, Microsphe... |
OMIM:277600 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ... |
OMIM:231070 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
Aceruloplasminemia |
|
Retinal degeneration, Ataxia, Anemia |
OMIM:604290 |
Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Ataxia, Akinesia, Limb ataxia, Gait ataxi... |
ORPHA:48818 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Cataract, Micromelia, Micrognathia, Short long bone, Talipes equinovaru... |
OMIM:224410 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short philtrum, Hypocalcemia, Arachnodactyly, Abnormal dental enamel morphology, Ob... |
ORPHA:567 |
Glucagonoma |
|
Stomatitis, Glossitis, Hypercalcemia, Weight loss |
ORPHA:97280 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Retrognathia, C... |
OMIM:192430 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia |
ORPHA:466722 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Osteoporosis, Small hand, Obesity... |
ORPHA:398079 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p... |
OMIM:166210 |
3Q29 Microdeletion Syndrome |
|
Cataract, Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, Abnorma... |
ORPHA:65286 |
Double Outlet Right Ventricle |
|
Submucous cleft hard palate, Cleft palate, Hypocalcemia, Narrow mouth, Failure to thrive |
ORPHA:3426 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Retinal degeneration |
OMIM:615630 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Limitation of ... |
ORPHA:728 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Failure to thrive, Multiple cafe-au-lait spots |
ORPHA:100 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... |
ORPHA:31824 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract, Flexion contracture of finger |
ORPHA:1010 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula... |
OMIM:304150 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Coarse hair, Micro... |
ORPHA:1896 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration... |
ORPHA:37042 |
Multiple Endocrine Neoplasia, Type I |
|
Cafe-au-lait spot, Hypercalcemia |
OMIM:131100 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulatin... |
ORPHA:36234 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Clinodactyly of the... |
OMIM:266920 |
Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Ataxia, Retinal degeneration, Acanthocytosis |
OMIM:615558 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Spotty hypopigmentation, Agenesis... |
OMIM:210900 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration, Craniosynostosis |
OMIM:250410 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Chorioretinitis, Panuveitis, Panniculitis, O... |
OMIM:301081 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Hypert... |
OMIM:619479 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, High, narrow palate, Abn... |
ORPHA:3472 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Failure to thrive in infancy, Hypocalcemia, Equinus calcaneus |
ORPHA:746 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Retinal hemorrhage, Uveitis, Granulomatosis, Conjunctivitis, ... |
OMIM:608710 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Hypoa... |
OMIM:613658 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... |
OMIM:135500 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Iris colobom... |
ORPHA:818 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit... |
ORPHA:98754 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Abnormal dental enamel morphology, Ocular a... |
ORPHA:79430 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Gingival bleeding, F... |
OMIM:619172 |
Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Cataract, Finger syndactyly, Broad hallux phalanx, Shor... |
ORPHA:959 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Small for gestational age, Small ... |
ORPHA:177901 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... |
OMIM:253280 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Cataract, Joint stiffness, Hypop... |
ORPHA:2588 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Cataract, Rocker bottom foot, Tapered finger, Narrow mouth, Absent axil... |
OMIM:601353 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Weight loss |
ORPHA:97282 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... |
OMIM:143095 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Failure to thrive |
ORPHA:70472 |
Shigellosis |
|
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... |
ORPHA:810 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Retinal degeneration, Gait ataxia |
OMIM:618479 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Uveitis, Reduced bone mineral density, Developmental cataract, Rib exostoses... |
ORPHA:2108 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Abnormality of the dentition, Hypoplastic iliac wing, Avascu... |
ORPHA:93315 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit... |
ORPHA:98793 |
Ppoma |
|
Hypercalcemia, Weight loss |
ORPHA:97278 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Aplasia/Hypoplasia of the ulna |
ORPHA:2491 |
Frontorhiny |
|
Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal s... |
ORPHA:391474 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Osteoporosis, Obesit... |
ORPHA:177904 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ... |
OMIM:139210 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys... |
OMIM:193500 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
Transketolase Deficiency |
|
Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Recurrent fractures, Small abnormal... |
ORPHA:140 |
Chops Syndrome |
|
Curly hair, Cataract, Thick hair, High, narrow palate, Synophrys, Obesity, Downturned corners of ... |
OMIM:616368 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He... |
ORPHA:227990 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Abnormalit... |
ORPHA:79282 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o... |
ORPHA:3261 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Somatostatinoma |
|
Hypercalcemia, Weight loss |
ORPHA:97283 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor... |
ORPHA:1328 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Retinal pigment epithelial ... |
OMIM:219800 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Osteopetrosis |
OMIM:618541 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Vacuolated lymphocytes, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:248500 |
Grfoma |
|
Hypercalcemia, Weight loss |
ORPHA:97261 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Weight loss |
ORPHA:913 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Generalized morning stiffness, Iridocycliti... |
ORPHA:85436 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He... |
ORPHA:227982 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Flexion contracture, Osteoporosis... |
ORPHA:398069 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of hair, Abnormality of the dentition, Small hand, Osteoporosis, Inc... |
ORPHA:739 |
Mend Syndrome |
|
Cataract, Broad hallux, Overlapping toe, Micrognathia, Asymmetry of the mouth, Long fingers, Elev... |
ORPHA:401973 |
Pearson Syndrome |
|
Cataract, Small for gestational age, Hypomagnesemia, Corneal stromal edema, Pigmentary retinopath... |
ORPHA:699 |
Lathosterolosis |
|
Thick upper lip vermilion, Cataract, Toe syndactyly, Micrognathia, Postaxial hand polydactyly, Os... |
OMIM:607330 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Retinal degeneration, Gait disturbance, Difficulty walking |
ORPHA:79244 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short nail, Cone-shaped epiphyses of the phalanges of the ha... |
ORPHA:420794 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe, Absent eyeb... |
OMIM:264090 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... |
ORPHA:56305 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Cataract, Radial deviation of the hand, Sandal gap, Short hum... |
OMIM:607323 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Cataract, Thin nail, Coxa valga, Hypoplastic iliac wing, Long fingers, ... |
OMIM:617561 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Short femur, Dental crowding, Micr... |
OMIM:300990 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Failure to thrive, Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow,... |
OMIM:619869 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue, Coarse hair,... |
OMIM:158310 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Synophrys, Low anterior hairline, S... |
OMIM:619841 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp... |
OMIM:182250 |
Joubert Syndrome 6 |
|
Retinal degeneration, Ataxia, Chorioretinal coloboma |
OMIM:610688 |
Localized Scleroderma |
|
Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has... |
ORPHA:90289 |
Juvenile Xanthogranuloma |
|
Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis |
ORPHA:158000 |
Catel-Manzke Syndrome |
|
Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxit... |
OMIM:616145 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pre... |
OMIM:619488 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
Say-Barber-Miller Syndrome |
|
Eczema, Craniosynostosis, Erythema nodosum, Elbow flexion contracture, Optic atrophy, Knee flexio... |
ORPHA:3132 |
Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f... |
ORPHA:565 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P... |
ORPHA:31204 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Abnormal retin... |
ORPHA:727 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... |
ORPHA:125 |
Gaucher Disease, Type I |
|
Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Pathologic ... |
OMIM:230800 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae, Long eyela... |
OMIM:615877 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Mend Syndrome |
|
Microretrognathia, Failure to thrive, Cataract, Broad hallux, Overlapping toe, Micrognathia, Long... |
OMIM:300960 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... |
OMIM:605808 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Sparse scalp hair, Failure to thrive, Small for gestational age, Increased VLDL cho... |
OMIM:243800 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Synophrys, Widely spaced teeth, High palate, Clinodactyly of... |
OMIM:612474 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Early ossification of capital femoral epiphyses, Retinal degeneration |
OMIM:208500 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Sclerocornea, Micrognathia, Short metatarsal, Short philtrum, Absent ... |
OMIM:216340 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Microcor... |
ORPHA:199 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ... |
ORPHA:32960 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Microdontia, Cleft ... |
OMIM:604292 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... |
ORPHA:167 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Bifid uvula, Hypoplasia o... |
OMIM:218600 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Cataract, Gingival overgrowth, Rhizom... |
ORPHA:508542 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Dow... |
OMIM:619539 |
Whipple Disease |
|
Myositis, Pericarditis, Ataxia, Myocarditis, Splenomegaly, Uveitis, Arthritis, Infectious encepha... |
ORPHA:3452 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gingivitis, Giant melanosomes in mel... |
OMIM:214500 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair, Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology |
ORPHA:935 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Large... |
ORPHA:96334 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Synophrys, Downturned corners of mouth, Short philtrum, Sparse hair, Premature loss o... |
ORPHA:3455 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... |
ORPHA:79408 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Inability to walk, Retinal degeneration, Ataxia, Gait disturbance |
ORPHA:2822 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Few cafe-au-lait spots, Sandal gap... |
OMIM:620330 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Sparse hair, Wr... |
OMIM:268300 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Ungual fibroma, Patchy atrophy of the retinal pigment epithe... |
ORPHA:1433 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Hyperconvex nail, Wide distal femoral metaphysis, Postaxial hand... |
OMIM:269150 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Choreoathetosis, Bradykinesia, Pigmentary retino... |
OMIM:234200 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Contractures of the large joints, Retinal degeneration |
ORPHA:96179 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia, Cleft palate, Micrognathia |
ORPHA:2306 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic... |
OMIM:117650 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Metaphyseal widening, Osteoporosis, Incr... |
OMIM:259770 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization |
ORPHA:404451 |
Viss Syndrome |
|
Joint laxity, Chronic gastritis, Retinal detachment, Exostosis of the external auditory canal, Ec... |
OMIM:619472 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cataract, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of the maxilla, Sparse eyebrow, W... |
ORPHA:306542 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Inability to walk, Limitation of joint mobility, Bilateral wrist flexion contrac... |
ORPHA:97297 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint stiffness, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovit... |
ORPHA:85408 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Carious teeth, Reticulated skin pi... |
OMIM:305000 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Joint laxity, Dry hair, Elevated circulating alpha-fetoprotein concentration, Micro... |
OMIM:619991 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymit... |
ORPHA:1304 |
Charge Syndrome |
|
Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Cleft upper lip, Absent radius, Short t... |
OMIM:214800 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Cataract, Large for gestational age, Abnormal thumb morphology, Metatarsus adductus, Tibial bowin... |
ORPHA:500095 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Macular degeneration, Dysdiadochokinesis, Shuffling gait |
ORPHA:247234 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral densi... |
ORPHA:47159 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyroiditis, Ulcerative c... |
ORPHA:171 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Optic neuropathy, Iridocyclitis, Splenomegaly, Bone cyst, Bronchiectasis, Uveitis, ... |
OMIM:181000 |
Igg4-Related Thyroid Disease |
|
Sialadenitis, Hypocalcemia |
ORPHA:64744 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Small for gestational age, Abnormality of iron homeostasi... |
ORPHA:84064 |
Rift Valley Fever |
|
Skin rash, Retinitis, Thrombocytopenia, Hepatitis, Uveitis, Macular edema, Retinal hemorrhage, Re... |
ORPHA:319251 |
Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Bronchiectasis, Uveitis |
OMIM:612387 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Gitelman Syndrome |
|
Hypermagnesemia, Gout, Hypokalemia, Hypocalcemia, Hypomagnesemia, Failure to thrive |
ORPHA:358 |
Digeorge Syndrome |
|
Sclerocornea, Micrognathia, High, narrow palate, Obesity, Cleft palate, High palate, Hypocalcemia... |
OMIM:188400 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Orchitis, Neutrop... |
ORPHA:99826 |
Leprosy |
|
Abnormality of the spleen, Uveitis, Steppage gait, Iritis, Corneal perforation, Corneal ulceration |
ORPHA:548 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Short femur, Flexion contracture, Orofacial cleft, Polydac... |
ORPHA:17 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Cleft palate, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
Leptospirosis |
|
Papilledema, Pericarditis, Skin rash, Hepatitis, Uveitis, Retinal hemorrhage, Chorioretinitis, Op... |
ORPHA:509 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Ataxia, Dysmetria, Abnormal fundus morphology, Macular degeneration, Dys... |
ORPHA:94147 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb |
OMIM:314390 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Septic arthritis, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial synostosis, Hypoplasia ... |
ORPHA:3404 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Failure to thrive, Sinusitis |
ORPHA:83471 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Corneal opacity, Eczema, Camptodactyly of finger, Keratitis, Corneal erosion, Cheil... |
ORPHA:2273 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, High, narrow palate, Tooth ... |
OMIM:309800 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu... |
ORPHA:93126 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Thick eyebrow, Tapered finger |
OMIM:618367 |