Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Linear Verrucous Nevus Syndrome |
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Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris coloboma, Aplasia/Hypop... |
ORPHA:2611 |
Central Retinal Vein Occlusion |
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Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Wagner Vitreoretinopathy |
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Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Iris Pigment Layer, Cleavage Of |
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Cataract, Peripheral retinal detachment |
OMIM:147610 |
Coats Disease |
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Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Retinitis Pigmentosa 40 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Cataract 50 With Or Without Glaucoma |
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Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cataract 21, Multiple Types |
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Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Vitamin D-Dependent Rickets, Type 3 |
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Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Retinitis Pigmentosa 84 |
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Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Cone-Rod Dystrophy 16 |
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Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinitis Pigmentosa 9 |
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Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Megalocornea |
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Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract |
OMIM:146200 |
Stickler Syndrome Type 2 |
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Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Hypercalcemia, Infantile, 2 |
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Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Vitreoretinochoroidopathy |
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Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Retinitis Pigmentosa 4 |
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Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Dent Disease 2 |
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Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Retinal Dystrophy And Obesity |
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Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Vitreoretinopathy, Neovascular Inflammatory |
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Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Cystinosis |
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Retinopathy, Hypokalemia, Corneal opacity, Hypophosphatemia |
ORPHA:213 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Eales Disease |
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Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Hypophosphatemic Bone Disease |
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Hypophosphatemia |
OMIM:146350 |
Kenny-Caffey Syndrome, Type 2 |
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Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos... |
OMIM:127000 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Myopia 28, Autosomal Recessive |
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Retinal detachment, Cataract |
OMIM:619781 |
Exudative Vitreoretinopathy 6 |
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Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Malignant Hyperthermia, Susceptibility To, 3 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Ectopia Lentis Et Pupillae |
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Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Hypophosphatemia |
OMIM:612287 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Congenital Primary Aphakia |
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Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Hypocalcemia, Autosomal Dominant 1 |
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Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Familial Isolated Hyperparathyroidism |
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Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hypophosphatemia |
OMIM:612286 |
Infantile Nephropathic Cystinosis |
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Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Abnormal cornea morph... |
ORPHA:411629 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Hypophosphatemia |
OMIM:308990 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Genetic Hyperferritinemia Without Iron Overload |
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Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Pseudohypoparathyroidism, Type Ib |
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Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Colchicine Poisoning |
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Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... |
ORPHA:31824 |
Autoimmune Hypoparathyroidism |
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Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... |
ORPHA:36913 |
Aniridia 2 |
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Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Morning Glory Disc Anomaly |
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Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like depo... |
OMIM:211900 |
Alport Syndrome 3A, Autosomal Dominant |
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Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia |
OMIM:104200 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Fanconi Renotubular Syndrome 1 |
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Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Norrie Disease |
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Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Pseudohypoparathyroidism Type 2 |
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Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Hereditary Fructose Intolerance |
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Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,... |
OMIM:239000 |
Autosomal Dominant Keratitis |
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Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Uremic Pruritus |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cataract |
OMIM:612462 |
Vitamin D-Dependent Rickets, Type 2A |
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Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Blue Diaper Syndrome |
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Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Fanconi Renotubular Syndrome 2 |
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Hypophosphatemia |
OMIM:613388 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
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Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Fanconi-Bickel Syndrome |
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Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Pearson Syndrome |
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Cataract, Hypomagnesemia, Abnormal heart morphology, Corneal stromal edema, Pigmentary retinopath... |
ORPHA:699 |
Hyperparathyroidism, Neonatal Severe |
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Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Cystinosis, Nephropathic |
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Hyponatremia, Retinal pigment epithelial mottling, Corneal crystals, Reduced blood urea nitrogen,... |
OMIM:219800 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Oncogenic Osteomalacia |
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Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia, Cataract |
OMIM:103580 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Papilledema, Developmental cataract, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetan... |
ORPHA:93325 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94089 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil m... |
ORPHA:534 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Corneal opacity, Hypocalcemia, Astigmatism |
ORPHA:2323 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Dent Disease |
|
Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond... |
ORPHA:423 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Optic nerve compression, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:79444 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circulating creatinine c... |
ORPHA:247691 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Hyperphosphatemia, Blue irides |
OMIM:101800 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cataract, Band keratopathy, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalc... |
ORPHA:79443 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |