Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Cataract, Optic disc pallor |
OMIM:165300 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract, Hepatomegaly |
ORPHA:79281 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Wagner Vitreoretinopathy |
|
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... |
OMIM:143200 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... |
OMIM:613496 |
Birdshot Chorioretinopathy |
|
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... |
ORPHA:179 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Coats Disease |
|
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... |
ORPHA:190 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract |
OMIM:312910 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, 3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... |
OMIM:614292 |
Retinitis Pigmentosa 84 |
|
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618220 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... |
OMIM:193230 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency... |
OMIM:615382 |
Cone-Rod Dystrophy 16 |
|
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... |
OMIM:614500 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Retinitis Pigmentosa 9 |
|
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... |
OMIM:180104 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Increased total bilirubin, Hype... |
OMIM:267700 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:398063 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corti... |
OMIM:619902 |
Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy |
ORPHA:90654 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... |
OMIM:309300 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Choreoathetosis, Retinal degeneration |
OMIM:257970 |
Retinitis Pigmentosa 4 |
|
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... |
OMIM:613731 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... |
OMIM:610202 |
Morm Syndrome |
|
Cataract, Abnormality of the kidney, Micropenis, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
Retinitis Pigmentosa 13 |
|
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... |
OMIM:600059 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis, Retinal degeneration |
OMIM:613615 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemia, Waddling gait,... |
ORPHA:157215 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Hemat... |
ORPHA:1473 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Chronic kidney dise... |
ORPHA:85445 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma, Hematuria |
OMIM:120433 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Microphthalmia, Isolated 5 |
|
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th... |
OMIM:611040 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... |
OMIM:616468 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoproteinemia, Ataxia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating f... |
OMIM:603553 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154275 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Senior-Loken Syndrome |
|
Cataract, Stage 5 chronic kidney disease, Chronic kidney disease, Nephronophthisis, Abnormality o... |
ORPHA:3156 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Cataract 47 |
|
Cataract, Microcornea, Glycosuria |
OMIM:612018 |
Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ... |
OMIM:616108 |
Leber Congenital Amaurosis 2 |
|
Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ... |
OMIM:204100 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Micropenis, Retinal dystrophy |
OMIM:610156 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... |
ORPHA:891 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154276 |
Leber Congenital Amaurosis 1 |
|
Cataract, Pigmentary retinopathy, Hepatomegaly, Fundus atrophy, Hyperthreoninuria, Keratoconus, A... |
OMIM:204000 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
Leber Congenital Amaurosis 8 |
|
Cataract, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Nummul... |
OMIM:613835 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal ... |
OMIM:251270 |
Cataract 9, Multiple Types |
|
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:145600 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... |
ORPHA:26793 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Subcapsular cataract, Retinal exudate, Re... |
OMIM:133780 |
Aniridia 2 |
|
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy |
OMIM:617141 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Subcapsular cataract, Retinal exudate, Tractional retinal de... |
OMIM:601813 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia, Difficulty walking |
OMIM:600081 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Proteinuria, Glomerulopathy, Renal insufficiency, Macular dystrophy, Retinopathy, Abnor... |
ORPHA:225 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Difficult... |
OMIM:241530 |
Cystinosis |
|
Gait disturbance, Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis, Retinal degeneration |
OMIM:614844 |
Retinitis Pigmentosa 86 |
|
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:618613 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Retinitis Pigmentosa 2 |
|
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... |
OMIM:312600 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... |
ORPHA:730 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94090 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Chor... |
OMIM:212550 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract, Abnormal macular morphology, Chorioretinal hyperpigmentation, Ami... |
ORPHA:414 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Difficulty walking |
OMIM:264700 |
Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Proteinuria, Stage 5 chronic kidney disease, Corneal erosion, Renal insufficiency, Thic... |
OMIM:203780 |
Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... |
ORPHA:2334 |
Intermediate Uveitis |
|
Cataract, Vitreous floaters, Optic neuritis, Vitreous snowballs, Tubulointerstitial nephritis, Ep... |
ORPHA:279914 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Stickler Syndrome, Type V |
|
Cataract, Vitreoretinopathy, Retinal detachment |
OMIM:614284 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Papillorenal Syndrome |
|
Horseshoe kidney, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Macular dege... |
OMIM:120330 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen |
ORPHA:94059 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Enlarged kidney, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, ... |
ORPHA:251004 |
Isolated Aniridia |
|
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Galactose Epimerase Deficiency |
|
Cataract, Hepatomegaly, Splenomegaly, Aminoaciduria |
ORPHA:79238 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Pigmentary retinopathy, Tremor, Intention tremor, Rod-cone dystrophy |
OMIM:614307 |
Colchicine Poisoning |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... |
ORPHA:31824 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... |
OMIM:617304 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Gait disturbance, Inability to walk, Ataxia, Hypertriglyceridemia, Increased cir... |
ORPHA:167 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Waddling gait, Hypercalcemia |
OMIM:156400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Ectopic kidney, Optic disc pallor, Hepatomegaly, Cystic renal dysplasia |
OMIM:613730 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation |
ORPHA:171844 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... |
ORPHA:83461 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia, Difficulty walking |
OMIM:277440 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Renal tubular atrophy, Enlarged kidney, Chorioretinal hypopigmentation, Hepatomegaly... |
OMIM:617303 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Hepa... |
OMIM:608836 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, M... |
OMIM:619743 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Cataract |
OMIM:273680 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613581 |
Norrie Disease |
|
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hypoplasia of... |
OMIM:310600 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:289157 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia |
OMIM:600740 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Cataract 10, Multiple Types |
|
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Bardet-Biedl Syndrome 9 |
|
Cataract, Astigmatism, Renal insufficiency, Retinal degeneration, Bone spicule pigmentation of th... |
OMIM:615986 |
Glycogen Storage Disease Ia |
|
Proteinuria, Decreased glomerular filtration rate, Enlarged kidney, Hepatomegaly, Nephrolithiasis... |
OMIM:232200 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest |
OMIM:608022 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Calcinosis, Hypercalcemia |
OMIM:239200 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Genetic Recurrent Myoglobinuria |
|
Difficulty walking, Hyperphosphatemia, Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... |
OMIM:227810 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Glycogen Storage Disease Ib |
|
Proteinuria, Decreased glomerular filtration rate, Enlarged kidney, Hepatomegaly, Nephrolithiasis... |
OMIM:232220 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation |
ORPHA:65 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Hypoplasia of penis |
ORPHA:1381 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract |
OMIM:116200 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... |
OMIM:269400 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Cataract, Stage 5 chronic kidney disease, Glycosuria, Renal Fanconi syndrome, Optic disc pallor, ... |
OMIM:268315 |
Joubert Syndrome 9 |
|
Cataract, Astigmatism, Stage 5 chronic kidney disease, Retinal dystrophy |
OMIM:612285 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy |
OMIM:616722 |
Enhanced S-Cone Syndrome |
|
Cataract, Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema |
OMIM:268100 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Oculoauricular Syndrome |
|
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Morning glory anomaly, Cone/cone-rod dyst... |
OMIM:612109 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Subcapsular cataract, Intention tremor, Optic atrophy, Rod-cone dystrophy |
OMIM:612674 |
Denys-Drash Syndrome |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Peters Anomaly |
|
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hypermagnesemia, Hyperuricemia |
ORPHA:469 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Cataract, Bifid ureter, Enlarged kidney, Astigmatism, Renal malrotation, Multicystic kidney dyspl... |
ORPHA:500095 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... |
ORPHA:411634 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Heparan sulfate excretion in urine, Proteinuria, Enlarged kidney, Heavy prote... |
ORPHA:505248 |
Cataract 3, Multiple Types |
|
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Ureteral atresia, R... |
OMIM:208540 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Antalgic gait, Hypophosphatemia, Difficulty walking |
ORPHA:249 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Tractional retinal detachment, Buphthalmos, Persistent pupillary membrane, Shallow ante... |
ORPHA:91495 |
Idiopathic Panuveitis |
|
Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... |
ORPHA:280921 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Proximal renal tubular acidosis, Cataract, Impaired renal tubular reabsorption of bicarbonate, Ba... |
OMIM:604278 |
Wolfram Syndrome 1 |
|
Cataract, Hydronephrosis, Neurogenic bladder, Hydroureter, Pigmentary retinopathy, Tremor, Optic ... |
OMIM:222300 |
Cataract 16, Multiple Types |
|
Developmental cataract, Posterior polar cataract, Lenticonus, Retinal dystrophy |
OMIM:613763 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... |
OMIM:610256 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract, Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia |
ORPHA:158048 |
H Syndrome |
|
Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Enlarged kidney, Corneal arcus |
ORPHA:168569 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Cataract 5, Multiple Types |
|
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
Aniridia 1 |
|
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... |
OMIM:106210 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Cataract, Proteinuria, Glomerulopathy, Abnormal retinal vascular morphology, Renal insufficiency,... |
ORPHA:2715 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Re... |
OMIM:221900 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... |
ORPHA:3337 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Cataract, Microscopic hematuria, Proteinuria, Abnormal renal physiology, Stage 5 chronic kidney d... |
OMIM:308940 |
Pierson Syndrome |
|
Cataract, Proteinuria, Retinal vascular tortuosity, Hypopigmentation of the fundus, Diffuse mesan... |
OMIM:609049 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic ... |
OMIM:614376 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Woolly Hair |
|
Cataract, Abnormal pupil morphology, Abnormal retinal morphology |
ORPHA:170 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Liver Disease, Severe Congenital |
|
Hypoproteinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hyperalani... |
OMIM:619991 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Enlarged kidney, Renal Fanconi syndrome, Renal insufficiency, Hepatomegaly, Ele... |
OMIM:276700 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia |
ORPHA:405 |
Thyrotoxic Periodic Paralysis |
|
Transient hypophosphatemia, Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, ... |
ORPHA:79102 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Multiple renal cysts, Splenomegaly, Enlarged kidney |
ORPHA:464329 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract |
OMIM:116100 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Optic atrophy, Optic disc pallor |
ORPHA:320406 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Nephrolithiasis, Vesicoure... |
OMIM:130650 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration |
ORPHA:29073 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Microphallus, Enlarged kidney, Hypospadias |
OMIM:612651 |
Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cataract, Macular degeneration, Neurogenic bladder |
OMIM:619780 |
Mucolipidosis Ii Alpha/Beta |
|
Mucopolysacchariduria, Enlarged kidney, Megalocornea, Hepatomegaly, Opacification of the corneal ... |
OMIM:252500 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomegaly, Enlarged kidney |
OMIM:261740 |
Alg9-Cdg |
|
Hydronephrosis, Torticollis, Enlarged kidney, Hypoplasia of the bladder, Abnormal renal artery mo... |
ORPHA:79328 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
Pearson Syndrome |
|
Hypophosphatemia, Ataxia, Hyperalaninemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:699 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic atrophy, Rod-cone d... |
OMIM:300578 |
Igg4-Related Kidney Disease |
|
Hydronephrosis, Proteinuria, Acute kidney injury, Urinary bladder inflammation, Enlarged kidney, ... |
ORPHA:449395 |
Cystinosis, Nephropathic |
|
Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, Decreased p... |
OMIM:219800 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Gaisböck Syndrome |
|
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... |
ORPHA:90041 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94089 |
Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Fructose Intolerance, Hereditary |
|
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia |
OMIM:229600 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Neuroleptic Malignant Syndrome |
|
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... |
ORPHA:94093 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Choroideremia, Multiple renal cysts, Hepatomegaly, Congenital megaureter, Nephro... |
ORPHA:116 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Nephrocalcinosis, Enlarged kidney, Stage 5 chronic kidney disease, Hepatomegaly, Nep... |
ORPHA:79259 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:423 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Hepatosplenomegaly, Acute kidney... |
ORPHA:731 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Retinal detachment, Exaggerated startle response, Retinal dysplasia, Optic atrophy |
OMIM:253800 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Sandhoff Disease |
|
Hepatosplenomegaly, Urinary incontinence, Hepatomegaly, Cherry red spot of the macula, Exaggerate... |
OMIM:268800 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Exaggerated... |
OMIM:608643 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia |
ORPHA:534 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets |
ORPHA:289176 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Microphthalmia, Syndromic 5 |
|
Cataract, Micropenis, Optic nerve hypoplasia, Microcornea, Retinal dystrophy |
OMIM:610125 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enuresis nocturna, Astigmatism, Enlarged kidney |
OMIM:615873 |
Knobloch Syndrome |
|
Cataract, Ectopia lentis, Bifid ureter, Vitreoretinopathy, Macular degeneration, Retinal detachme... |
ORPHA:1571 |
Meacham Syndrome |
|
Horseshoe kidney, Enlarged kidney |
OMIM:608978 |
Cataract 39, Multiple Types |
|
Developmental cataract, Anterior polar cataract, Lamellar cataract |
OMIM:615188 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Torticollis, Enlarged kidney, Cardiomegaly |
OMIM:300855 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Exaggerated startle response |
OMIM:608800 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy |
OMIM:616881 |
Stromme Syndrome |
|
Cataract, Hydronephrosis, Retinal vascular tortuosity, Iris coloboma, Optic nerve hypoplasia, Bil... |
OMIM:243605 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:79444 |
Leprechaunism |
|
Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Enlarged ovaries, Hypercalciuria, Long penis |
ORPHA:508 |
Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Horseshoe kidney, Hepatomegaly, Cardiomegaly, Renal agenesis |
OMIM:306955 |
Pseudohypoparathyroidism Type 1A |
|
Choreoathetosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Cal... |
ORPHA:79443 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract |
OMIM:605387 |
Tay-Sachs Disease |
|
Hepatosplenomegaly, Cherry red spot of the macula, Tremor, Exaggerated startle response, Laryngea... |
ORPHA:845 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypo... |
ORPHA:466650 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Increased urinary galactosylated oligosaccharide, Cherry red spot of the macu... |
ORPHA:79255 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Cortical cataract, Lamellar cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Cortical cataract, Lamellar cataract |
OMIM:611391 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia |
OMIM:617864 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cataract, Cerulean cataract, Posterior cortical cataract, Anterior subcapsular cataract, Postural... |
ORPHA:67036 |
Alagille Syndrome 1 |
|
Cataract, Stage 5 chronic kidney disease, Pigmentary retinopathy, Duplicated collecting system, R... |
OMIM:118450 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany |
ORPHA:93325 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Decreased glomerular filtration rate, Renal interstitial edema, Papilledema, Renal neutrophilic t... |
ORPHA:91500 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy |
OMIM:617301 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Cardiac-Urogenital Syndrome |
|
Patent urachus, Penoscrotal hypospadias, Micropenis, Enlarged kidney |
OMIM:618280 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydronephrosis, Enlarged kidney, Duplication of renal pelvis, Renal cyst, Hepatomegaly, Right ven... |
OMIM:312870 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response |
OMIM:615574 |
Proximal Renal Tubular Acidosis |
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Cataract, Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Band ker... |
ORPHA:47159 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Optic atrophy |
OMIM:617527 |
Leptospirosis |
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Hyperproteinemia |
ORPHA:509 |
Obsolete: Acrodysostosis With Multiple Hormone Resistance |
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Hyperphosphatemia, Hypocalcemia |
ORPHA:280651 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Enuresis, Hydronephrosis, Urinary incontinence, Ureteropelvic junction obstruction, Chordee, Exag... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hydronephrosis, Optic disc pallor, Exaggerated startle response, Nephrolithiasis, Vesicoureteral ... |
ORPHA:438213 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |