Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hyperphosphatemia, Hypocalcemia, Cataract, Hypocalcemic seizures |
OMIM:146200 |
Macular Dystrophy, Corneal |
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Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Malignant Hyperthermia, Susceptibility To, 2 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoparathyroidism, Type Ib |
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Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Ring Dermoid Of Cornea |
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Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Malignant Hyperthermia, Susceptibility To, 3 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Cataract 21, Multiple Types |
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Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Hypocalcemia, Autosomal Dominant 1 |
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Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Autoimmune Hypoparathyroidism |
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Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Cataract, Hypocalcemic seizures, Hypocalc... |
ORPHA:36913 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pseudohypoparathyroidism Type 2 |
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Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Schnyder Corneal Dystrophy |
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Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Megalocornea |
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Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Cataract-Microcornea Syndrome |
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Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Blue Diaper Syndrome |
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Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Linear Verrucous Nevus Syndrome |
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Retinopathy, Hypophosphatemia, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypop... |
ORPHA:2611 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Conjunctival whitish salt-like deposits, Hyperphosphatemia, Angioid streaks of the fundus, Calcin... |
OMIM:211900 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Cataract |
OMIM:612462 |
Stickler Syndrome Type 2 |
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Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Kenny-Caffey Syndrome, Type 2 |
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Hyperphosphatemia, Retinal calcification, Transient hypophosphatemia, Developmental cataract, Hyp... |
OMIM:127000 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Hyperphosphatemia, Retinopathy, Hyperuricemia, Angioid streaks of the fundus, Retinal degeneratio... |
OMIM:239000 |
Pseudopseudohypoparathyroidism |
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Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Hyperphosphatemia |
OMIM:614207 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia, Cataract |
OMIM:103580 |
Sanjad-Sakati Syndrome |
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Astigmatism, Hypocalcemia, Corneal opacity, Hyperphosphatemia |
ORPHA:2323 |
Lattice Corneal Dystrophy Type I |
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Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Pseudohypoparathyroidism Type 1B |
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Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Hypocalcemic seizur... |
ORPHA:94089 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Genetic Recurrent Myoglobinuria |
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Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Amoebic Keratitis |
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Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hyperphosphatemia, Retinal calcification, Developmental cataract, Hypocalcem... |
ORPHA:93325 |
Vitamin D-Dependent Rickets, Type 3 |
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Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Autosomal Dominant Keratitis |
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Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Hypercalcemia, Infantile, 2 |
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Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Pseudohypoparathyroidism Type 1C |
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Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Hypocalcemic seizur... |
ORPHA:79444 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Hyperphosphatemia, Blue irides, Optic atrophy |
OMIM:101800 |
Neuroleptic Malignant Syndrome |
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Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Autosomal Dominant Hypocalcemia |
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Hypocalcemia, Optic atrophy, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Corneal Endothelial Dystrophy |
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Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Pseudohypoparathyroidism Type 1A |
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Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Cataract, Band keratopathy, H... |
ORPHA:79443 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Hyperphosphatemia |
ORPHA:457059 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Cystinosis |
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Hypokalemia, Hypophosphatemia, Retinopathy, Corneal opacity |
ORPHA:213 |
Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Herpes Simplex Virus Stromal Keratitis |
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Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Malignant Hyperthermia Of Anesthesia |
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Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Norrie Disease |
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Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Hypophosphatemic Bone Disease |
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Hypophosphatemia |
OMIM:146350 |
Cornea Plana 2, Autosomal Recessive |
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Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Dent Disease 2 |
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Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Granular Corneal Dystrophy Type I |
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Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Limbal Stem Cell Deficiency |
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Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Posterior Polymorphous Corneal Dystrophy |
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Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal blood ion concentration, Abnormal corne... |
ORPHA:411629 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Anterior Segment Dysgenesis 6 |
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Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hypophosphatemia |
OMIM:612286 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia |
ORPHA:340 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Blue irides, Hyperphosphatemia |
ORPHA:280651 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... |
ORPHA:157215 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Exercise-Induced Malignant Hyperthermia |
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Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Juvenile Nephropathic Cystinosis |
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Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal cornea morphology,... |
ORPHA:411634 |
Persistent Hyperplastic Primary Vitreous |
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Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... |
ORPHA:91495 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... |
OMIM:221900 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Retinal arteritis, Tractional retinal de... |
ORPHA:209959 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Fanconi-Bickel Syndrome |
|
Hypokalemia, Hypophosphatemia, Hypouricemia |
OMIM:227810 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Anterior polar cataract, Hypophosphatemia, Lenticonus |
OMIM:104200 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Cataract, Hypermagnesemia |
ORPHA:469 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase concentra... |
OMIM:619743 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Retinopathy, Hypophosphatemia, Decreased plasma carnitine, Hypokalem... |
OMIM:219800 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca |
ORPHA:411777 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hypouricemia |
OMIM:616026 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Pearson Syndrome |
|
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Corneal stromal edema, Cataract, Hypocalcemia, Hy... |
ORPHA:699 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Hyponatremia, Lentiglobus, Hypokalemia, Hypophosphatemia, Buphthalmos,... |
ORPHA:534 |
Raine Syndrome |
|
Hypophosphatemia, Neonatal death |
OMIM:259775 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... |
ORPHA:3337 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Dent Disease |
|
Cataract, Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia, Optic nerve compression |
ORPHA:667 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia |
OMIM:229600 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |