Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Metabolic acidosis, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circula... |
OMIM:613677 |
Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... |
OMIM:103900 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased serum creatinine, Hypernatriuria, Hyponatremia, Decre... |
OMIM:300539 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:603649 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis, Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Hypokalemic alkalosis,... |
OMIM:177200 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology |
ORPHA:1852 |
Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Retinal detachment, Peripheral retinal neovascularization, Vitreoretinopathy... |
OMIM:193235 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular flecks, Macular atrophy |
OMIM:600110 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Abnormal T-wave, Neoplasm of the adrenal gland, Metabolic alkalosis, Increased circu... |
ORPHA:231625 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Abnormality of circulating cortisol level, ... |
ORPHA:320 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Acidosis, Lobular glomerulopathy, Nephropathy, Renal insufficiency, Proteinur... |
OMIM:137950 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperchloremic metabolic acidosis, Hypophosphatemic rickets, Hypophospha... |
ORPHA:3337 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Metabolic alkalosis, Increased urinary potassium, Palpitations, Adrenal hyperplasia,... |
ORPHA:231580 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment |
OMIM:613310 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Hyper... |
OMIM:601894 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Neovascular Glaucoma |
|
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Retinal detachment, Ab... |
ORPHA:94058 |
Coats Disease |
|
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology |
ORPHA:190 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy |
OMIM:212550 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Metabolic alkalosis, Renal cortical adenoma, Decreased circulating renin level, Epis... |
ORPHA:231632 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Increased circulating 18-hydrox... |
OMIM:610600 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Metabolic acidosis, Proximal renal tubular acidosis, Impaired renal tubular reabsorp... |
OMIM:604278 |
Stickler Syndrome Type 2 |
|
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Acidosis, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:613944 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, S... |
OMIM:603278 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... |
OMIM:616818 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... |
OMIM:180080 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension |
OMIM:605115 |
Liddle Syndrome 2 |
|
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Decreased circulating ... |
OMIM:618114 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Hypoalbuminemi... |
ORPHA:84090 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... |
OMIM:603965 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Precocious puberty, Hypokalemia, Decreased circulating cortis... |
ORPHA:90795 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... |
OMIM:607364 |
Idiopathic Uveal Effusion Syndrome |
|
Superficial episcleral hyperemia, Retinal fold, Subretinal fluid, Exudative retinal detachment |
ORPHA:209956 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Hyperchloremic metabolic acidosis, Hypokalemia, Aminoaciduria, Hypovolemia, Hype... |
ORPHA:47159 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556037 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Metabolic acidosis, Orthostatic h... |
ORPHA:427 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Metabolic alkalosis, Decreased circulating ... |
OMIM:218030 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration, Macular atrophy |
OMIM:610381 |
Cataract 21, Multiple Types |
|
Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Nephrolithiasis, Hypokalemia, Metabolic alkalosis, Decreased circulating renin level, Pulmonary a... |
OMIM:615474 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Metabolic acidosis, Hyperuricosuri... |
OMIM:229600 |
Persistent Placoid Maculopathy |
|
Retinal pigment epithelial mottling, Choroidal neovascularization, Abnormal macular morphology, H... |
ORPHA:97341 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... |
ORPHA:567544 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556030 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Hypotension, Increased circulating renin level, Hyponatr... |
OMIM:203400 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Nephrocalcinosis |
OMIM:239199 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... |
OMIM:600995 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment |
ORPHA:436182 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... |
OMIM:613237 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension |
OMIM:607832 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Hypochloremic metabolic... |
OMIM:613845 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Increased serum lactate, Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Type 1 Diabetes Mellitus |
|
Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Renal Tubular Acidosis, Proximal |
|
Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis |
OMIM:179830 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia |
OMIM:617173 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated systolic blood pressure, Elevated cir... |
ORPHA:275555 |
Microspherophakia-Metaphyseal Dysplasia |
|
Retinal detachment |
OMIM:157151 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concentration, Arrhy... |
OMIM:255120 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Hypokalemic alkalosis, Increased circulating renin... |
OMIM:241150 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy |
OMIM:250450 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:161950 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Proteinuria, Ren... |
ORPHA:225 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Macular degeneration, Rod-cone dystrophy, Macular edema... |
OMIM:600138 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Pyruvate Carboxylase Deficiency |
|
Increased serum lactate, Increased serum pyruvate, Proximal renal tubular acidosis, Hyperalaninem... |
OMIM:266150 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Pulmonic stenosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insuffi... |
OMIM:610205 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... |
OMIM:615573 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:601813 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment |
OMIM:225200 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephrogenic diabetes insipidus, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Glycos... |
OMIM:613404 |
Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment |
OMIM:127200 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Pigmentary retinopathy |
OMIM:609016 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Metabolic acidosis, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis |
OMIM:602722 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Sudden cardiac death, Arrhythmia, Transient hyperlipidemia, Hypertrophic ... |
ORPHA:156 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... |
OMIM:608709 |
Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Metabolic acidosis, Hyperaldosteronism, Increased circulati... |
OMIM:177735 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... |
OMIM:248250 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612925 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... |
OMIM:613090 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... |
OMIM:608161 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612922 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... |
OMIM:300971 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia |
OMIM:615771 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Metabolic acidosis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, ... |
OMIM:614723 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Chorioretinal coloboma |
ORPHA:1473 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Metabolic acidosis, Tachycardia, Hypotension, Abnormal circulating trypto... |
ORPHA:79155 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612926 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Increased serum lactate, Renal cyst, Tubulointerstiti... |
ORPHA:255249 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Arrhythmia, Myocardial infarction, Proteinuria, Renal insu... |
ORPHA:54057 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Hypokalemia, Hyperte... |
OMIM:202010 |
Juvenile Nephropathic Cystinosis |
|
Metabolic acidosis, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proxi... |
ORPHA:411634 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Metabolic alkalosis, Abnormal urinary electrolyte concentration, Inc... |
ORPHA:199343 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration |
OMIM:225755 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Infantile hy... |
OMIM:143880 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbonaturia, Proteinur... |
OMIM:309000 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Renal tubular acidosis, Metabolic acidosis, Glycosuria, Nephropathy, Hypercalci... |
ORPHA:2088 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Nephrolithiasis, Renal tubular acidosis |
OMIM:267300 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Renal potassium wasting, Hypokalemic metabo... |
OMIM:612780 |
Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia, Polyuria, Alkalosis, Hydronephrosis, Central diabetes insipidus |
OMIM:304900 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyo... |
OMIM:204200 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hyperchloremic metabolic acidosis, Hypokalemia, Metabolic acidosis, Distal renal tubular acidosis... |
OMIM:611590 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:158900 |
Achromatopsia |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuati... |
ORPHA:49382 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Renal tubular acidosis, Arrhythmia, Third degree atrioventricular block, Prim... |
OMIM:530000 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Macular degeneration |
OMIM:256730 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Metabolic ketoacidosis, Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia... |
ORPHA:263455 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Glycogen Storage Disease Xi |
|
Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine kinase concentra... |
OMIM:612933 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Abnormal foveal morphology, Rod-cone dystrophy, Cystoid macular edema, Optic disc d... |
OMIM:611040 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy |
ORPHA:250984 |
Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Pul... |
ORPHA:567548 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension |
ORPHA:220 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:618349 |
Fanconi Renotubular Syndrome 5 |
|
Hyperchloremic metabolic acidosis, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Gly... |
OMIM:618913 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Abnormal vitreous humor morphology |
OMIM:604841 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... |
OMIM:613750 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615982 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Cardiomyopathy, Retinal degeneration |
OMIM:520000 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:602271 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Absent foveal reflex, Retinal dystrophy |
OMIM:615147 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:601678 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Abnormal renal medulla morphology, C... |
ORPHA:439232 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria, Hypertension |
OMIM:105200 |
Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:171844 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Metabolic acidosis, Hyperaldosteronism, Hypotension, Hypona... |
OMIM:264350 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Hypokalemic alkalosis, Palpitations, Hypocalciuria, Polyuria, Noctur... |
OMIM:263800 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Retinitis Pigmentosa 29 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612165 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Renal Fanconi syn... |
ORPHA:53693 |
Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, Chorioretinal coloboma |
OMIM:617662 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90653 |
Vogt-Koyanagi-Harada Disease |
|
Poliosis, Retinal detachment, Vitiligo, Premature graying of hair, Hypopigmented skin patches |
ORPHA:3437 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Renal Glucosuria |
|
Polyuria, Glycosuria, Enuresis nocturna |
OMIM:233100 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... |
OMIM:614196 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Increased serum lactate, Renal dysplasia, Renal cyst, Renal hypoplasia, R... |
OMIM:614922 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Vasculitis |
ORPHA:375 |
Acute Adrenal Insufficiency |
|
Decreased circulating aldosterone level, Decreased circulating cortisol level, Increased circulat... |
ORPHA:95409 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:160010 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Renal tubular acidosis, Renal tubular atrophy, Aminoaciduria, Red... |
OMIM:208085 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... |
ORPHA:839 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Hyperlysinemia, Renal tubular acidosis, Abnormal circulating carnitine concentration, Organic aci... |
ORPHA:431361 |
Gitelman Syndrome |
|
Graves disease, Metabolic alkalosis, Type I diabetes mellitus, Proteinuria, Primary hyperaldoster... |
ORPHA:358 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
Frasier Syndrome |
|
Nephrotic syndrome, Streak ovary, Hypergonadotropic hypogonadism, Nephroblastoma, Focal segmental... |
ORPHA:347 |
Senior-Loken Syndrome 4 |
|
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Myoglobinuria, Hypotension, Mixe... |
OMIM:145600 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Glycogen Storage Disease X |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:261670 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm |
OMIM:615113 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate |
OMIM:264420 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum lactate, Increased serum pyruvate, Elevated circulating creatine kinase concentra... |
ORPHA:2364 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Renal insufficiency, Hypercalcemia, Glomerulopathy, Hyperparathyroidism |
ORPHA:2668 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Oguchi Disease |
|
Mizuo phenomenon, Rod-cone dystrophy, Congenital stationary night blindness, Macular degeneration |
ORPHA:75382 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proxi... |
OMIM:146255 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Metabolic acidosis, Glucocortocoid-insensitive primary hyperaldosteronism, Arr... |
ORPHA:171876 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment |
OMIM:615181 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Nephronophthisis 2 |
|
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... |
OMIM:602088 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Retinal detachment, Exudative retinopathy, Abnormal vitreous humor m... |
ORPHA:2788 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Metabolic acidosis, Glycosuria, Low-molecular-weight proteinuria, Elevated circula... |
OMIM:615605 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impair... |
ORPHA:89938 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... |
OMIM:171420 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Acidosis, Glycosuria, Re... |
OMIM:134600 |
Achondrogenesis Type 2 |
|
Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:93296 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... |
OMIM:617406 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Aminoaciduria, Elevated circulating parathyroid hormone level, Primary hyperpar... |
OMIM:239200 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
Megalocornea |
|
Retinal detachment, Iris transillumination defect |
OMIM:309300 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Hyperchloremic metabolic acidosis, Hypokalemia, Hypophosphatemia, Amin... |
ORPHA:411629 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia |
OMIM:606528 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Metabolic acidosis, Renal cortical hyperechogenic... |
OMIM:611555 |
Retinitis Pigmentosa 77 |
|
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy |
OMIM:617304 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Dilated cardiomyopathy |
ORPHA:2515 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... |
OMIM:162000 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Nephropathy, Type I diabetes mellitus, Proteinuria, Hypertension |
ORPHA:1192 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... |
OMIM:613464 |
Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Abnormality of the kidney, Intermittent lactic acidemia, Postprandial hyperlactem... |
ORPHA:369 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increa... |
OMIM:241200 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Lactic acidosis, Renal Fanconi syndrome, Pr... |
ORPHA:436271 |
Nance-Horan Syndrome |
|
Retinal detachment |
ORPHA:627 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Glycogen Storage Disease V |
|
Dark urine, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperuricemia |
OMIM:232600 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... |
OMIM:619155 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Aminoaciduria, Increased serum lactate, Glycosuria, Lactic acidosis, R... |
OMIM:220110 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Macular edema, Retinal ne... |
ORPHA:247691 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concent... |
OMIM:620010 |
Antiphospholipid Syndrome, Familial |
|
Retinal vasculitis, Retinal detachment, Central retinal artery occlusion, Vitritis |
OMIM:107320 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Diffuse me... |
OMIM:256300 |
Uveal Melanoma |
|
Retinal detachment, Abnormal fundus morphology, Vitreous hemorrhage |
ORPHA:39044 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria, Congestive heart failure, Hypogonadism |
ORPHA:66631 |
Stiff Skin Syndrome |
|
Hypertension, Retinal detachment |
ORPHA:2833 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia, Retinal detachment |
OMIM:219250 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration |
OMIM:613767 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment |
ORPHA:1856 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Retinal detachment |
OMIM:223330 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Aa Amyloidosis |
|
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nep... |
ORPHA:85445 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Elevated circulating creatine kinase concentration, Myoglobinuria, Hypert... |
ORPHA:370 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... |
ORPHA:79233 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Retinal detachment, Optic atrophy, Retinal fold, Chorioretinal dysplasia, Chorioretinal lacunae |
OMIM:152950 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Elevated circulating creatine kinase concentration, Myoglobinuria, Hypert... |
ORPHA:264580 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Stage 3 chronic kidney disease, Incre... |
OMIM:619743 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:300438 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy |
ORPHA:2143 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Metabolic acidosis, Proximal renal tubular acidosis, Increased serum lactate, Congenital lactic a... |
OMIM:615824 |
Galactosemia I |
|
Hyperchloremic metabolic acidosis, Increased level of galactitol in urine, Increased level of gal... |
OMIM:230400 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Metabolic acidosis, Polyuria, Hematochezia, Hypothyroidism, Hypertr... |
OMIM:618183 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Abnormality of retinal pigmentation |
ORPHA:480 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:289548 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria, Nephrogenic diabetes insipidus, Hypernatremia |
OMIM:125800 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Senior-Loken Syndrome |
|
Hypertension, Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:168558 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment |
OMIM:613153 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Cone-Rod Dystrophy 8 |
|
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... |
OMIM:605549 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... |
ORPHA:85138 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Renal tubular acidosis, Increased serum lactate, Hypospadias, Arrhythmia, Lactic acidosis, Hypera... |
OMIM:615471 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Optic disc pallor, Retinopathy, Macular atrophy |
OMIM:616171 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen |
OMIM:204000 |
Cystinosis, Nephropathic |
|
Metabolic acidosis, Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolit... |
OMIM:219800 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Leigh Syndrome |
|
Renal tubular dysfunction, Nephrotic syndrome, Renal tubular acidosis, Lacticaciduria, Increased ... |
ORPHA:506 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... |
OMIM:610283 |
Cystinosis |
|
Renal tubular dysfunction, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Aminoac... |
ORPHA:213 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Budd-Chiari syndrome, Increased blood urea nitrogen, Hemoglobinuria, Pulm... |
ORPHA:447 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Elevated circulating creatine kinase concentration, Myoglobinuria, Hypert... |
ORPHA:79240 |
Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Hyperproteinemia, Increased circulating renin level, Hypertriglycer... |
ORPHA:90041 |
Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Retinal detachment |
ORPHA:85194 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment |
ORPHA:3218 |
Helix Syndrome |
|
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagnesemia, Hype... |
OMIM:617671 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... |
OMIM:615986 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... |
ORPHA:816 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Metabolic alkalosis, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Adrenal hyp... |
ORPHA:251274 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Type I diabetes mellitus, Proximal tubulopathy |
OMIM:560000 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Chronic kidney disease, Elevated circulating creatine kinase... |
ORPHA:368 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... |
OMIM:312600 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Metabolic acidosis, Glycosuria, Proteinuria, Diabetes mellitus, ... |
OMIM:616026 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Metabolic acidosis, Recurrent uri... |
ORPHA:93598 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Hyperammonemia |
OMIM:616457 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Decreased glomerular filtration rate, Metabolic acidosis, Spider hemangioma, Hema... |
OMIM:232240 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Hypothyroidis... |
OMIM:617575 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Arrhythmia, Oliguria, Hyperphosphatemia, Renal... |
ORPHA:99845 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Retinal detachment |
OMIM:609616 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Increased serum lactate, Myocardial inf... |
OMIM:274150 |
Tubulointerstitial Nephritis With Uveitis |
|