Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Glaucoma, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy... |
OMIM:212550 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... |
OMIM:269400 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... |
OMIM:221900 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Glaucoma, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
Anterior Segment Dysgenesis 5 |
|
Glaucoma, Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hy... |
OMIM:604229 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy |
OMIM:160570 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
Norrie Disease |
|
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... |
OMIM:310600 |
Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency, Retinal vascular tortuosity |
ORPHA:73229 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Angle closure... |
ORPHA:91495 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension |
OMIM:607832 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Congenital Primary Aphakia |
|
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H... |
ORPHA:83461 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... |
ORPHA:2334 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... |
OMIM:613944 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... |
OMIM:617030 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... |
OMIM:613237 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Glaucoma, Ectopia lentis, Retinal vascular tortuosity, ... |
OMIM:106210 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Subcapsular catara... |
OMIM:600059 |
Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Glaucoma, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anteri... |
OMIM:251750 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... |
OMIM:161950 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Glaucoma, Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning o... |
OMIM:122000 |
Glaucoma, Primary Closed-Angle |
|
Angle closure glaucoma, Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber |
OMIM:618880 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypertension, Micros... |
OMIM:161900 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria |
ORPHA:2613 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Pr... |
ORPHA:567544 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... |
ORPHA:603 |
Microphthalmia/Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia |
OMIM:251505 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... |
OMIM:610202 |
Exudative Vitreoretinopathy 4 |
|
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... |
OMIM:601813 |
Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit |
OMIM:616428 |
Corneal dystrophy, lisch epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Glaucoma, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal D... |
ORPHA:98973 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... |
OMIM:609814 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ... |
ORPHA:329918 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Dilatation of the cerebral artery, Retinal arteriolar tortuosity, Renal insufficiency, Retinal he... |
OMIM:611773 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy |
OMIM:609273 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic s... |
OMIM:608709 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
Galloway-Mowat Syndrome 8 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... |
OMIM:618349 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Glaucoma, Microcornea |
OMIM:156700 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru... |
ORPHA:84090 |
X-Linked Retinoschisis |
|
Cataract, Glaucoma, Retinoschisis |
ORPHA:792 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
Iridocorneal Endothelial Syndrome |
|
Glaucoma, Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, A... |
ORPHA:64734 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Renal atrophy, Renal interstitial fibrosis, ... |
OMIM:620056 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Stickler Syndrome Type 2 |
|
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity |
ORPHA:90654 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria, Gastrointestinal hemorrhage |
OMIM:106070 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615987 |
Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... |
OMIM:614065 |
Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Abnormal bleeding, Glomerulonephritis |
OMIM:314000 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract |
OMIM:618660 |
Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Optic atrophy, Glaucoma, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachm... |
ORPHA:1473 |
Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... |
ORPHA:3002 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Glaucoma, Abnormal lens morphology, Phakodonesis, Retinal... |
OMIM:177650 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
Anterior Segment Dysgenesis 3 |
|
Glaucoma, Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld a... |
OMIM:601631 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Muscular dystrophy, Hypoplasia of the pons, Hypoplasia of the brainstem, Elevated circulating cre... |
OMIM:615181 |
Intermediate Uveitis |
|
Cataract, Vasculitis, Band keratopathy, Posterior synechiae of the anterior chamber, Macular edem... |
ORPHA:279914 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre... |
ORPHA:730 |
Acetyl-Coa Carboxylase-Alpha Deficiency |
|
Myopathy |
OMIM:613933 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Rod-cone dystrophy |
OMIM:606996 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Microcornea, Corneal opacity |
ORPHA:2432 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... |
OMIM:616963 |
Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Skin rash, Proteinuria, Hematuria, Nephrotic syndrome, Hypertension |
OMIM:105200 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
Retinitis Pigmentosa 77 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti... |
OMIM:617304 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephal... |
ORPHA:250972 |
Retinitis Pigmentosa 46 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... |
OMIM:612572 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility |
OMIM:300719 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Chorioretinal coloboma, Abnormality of retinal pigmentation, Nephrolithiasis, Hematu... |
ORPHA:2196 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
Limbal Stem Cell Deficiency |
|
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
Coats Disease |
|
Cataract, Glaucoma, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal... |
ORPHA:190 |
Retinitis Pigmentosa 83 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous... |
OMIM:618173 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Distal lower limb amyotrophy,... |
OMIM:614455 |
Retinitis Pigmentosa 10 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon... |
OMIM:180105 |
Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Nephronophthisis 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Renal cortical ... |
OMIM:613824 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ... |
OMIM:614195 |
Anti-Glomerular Basement Membrane Disease |
|
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Retinal detachment, Arth... |
ORPHA:375 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... |
OMIM:143880 |
Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma |
OMIM:231300 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... |
OMIM:217800 |
Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma |
OMIM:187501 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Muscular dystrophy, Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:615573 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Glaucoma, Peripheral retinal detachment |
OMIM:147610 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Rod-cone dystrophy, Nephronophthisis |
OMIM:609254 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma |
OMIM:604219 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Ventriculomegaly, Calf muscle pseudohypertrophy, Muscular dystrophy, Hypoplasia of... |
ORPHA:370959 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... |
OMIM:610256 |
Retinitis Pigmentosa 25 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... |
OMIM:602772 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death, Juvenile cataract |
OMIM:212500 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Recurrent otitis media, Obesity, Stage 5 chronic kidney disease, Renal insufficie... |
OMIM:615993 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum |
OMIM:218670 |
Retinitis Pigmentosa 56 |
|
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... |
OMIM:613581 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Chorioretinal degeneration, Posterior subcapsular cataract |
OMIM:615458 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Stroke, Myocardial ... |
ORPHA:54057 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
Neovascular Glaucoma |
|
Glaucoma, Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropi... |
ORPHA:94058 |
Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro... |
OMIM:617006 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia |
OMIM:614497 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Muscular dystrophy |
OMIM:204730 |
Cataract 42 |
|
Cataract, Glaucoma, Developmental cataract |
OMIM:115900 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ... |
ORPHA:325 |
Nephronophthisis 3 |
|
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... |
OMIM:604387 |
Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... |
ORPHA:231736 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... |
OMIM:618195 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Megalocornea |
|
Cataract, Glaucoma, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodone... |
OMIM:309300 |
Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... |
ORPHA:169805 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, M... |
ORPHA:1528 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... |
ORPHA:414 |
Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
Acquired Partial Lipodystrophy |
|
Proteinuria, Glomerulopathy, Microscopic hematuria, Myopathy |
ORPHA:79087 |
Phacoanaphylactic Uveitis |
|
Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,... |
ORPHA:209959 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... |
ORPHA:98957 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
Retinitis Pigmentosa 23 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal... |
OMIM:300424 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Chorioretinal coloboma |
OMIM:120433 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Retinitis Pigmentosa 14 |
|
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... |
OMIM:600132 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Retinal dysplasia, Hypoplasia of the brainstem, Dilated fourth vent... |
OMIM:615771 |
Hereditary Xanthinuria |
|
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... |
ORPHA:3467 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
Retinitis Pigmentosa 43 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bon... |
OMIM:613810 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
Nathalie Syndrome |
|
Cataract, Arrhythmia |
ORPHA:2663 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, G... |
OMIM:143200 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... |
OMIM:610205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Muscular dystrophy, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Retin... |
OMIM:614830 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... |
ORPHA:567546 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Optic nerve hypopl... |
OMIM:618890 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... |
ORPHA:567548 |
Galactosemia I |
|
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Failure to thrive,... |
OMIM:230400 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Alport Syndrome |
|
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... |
ORPHA:63 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... |
OMIM:613845 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
Cerebral Cavernous Malformations 2 |
|
Seizure, Telangiectasia, Stroke, Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603284 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Glaucoma 3, Primary Congenital, E |
|
Glaucoma, Corneal stromal edema, Increased cup-to-disc ratio, Megalocornea |
OMIM:617272 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly, Chorioretinal dysplasia |
OMIM:616335 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... |
OMIM:217300 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality of retinal ... |
ORPHA:3156 |
Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... |
OMIM:104200 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
Weill-Marchesani Syndrome 4 |
|
Glaucoma, Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis... |
OMIM:613195 |
Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... |
ORPHA:169802 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia... |
OMIM:610725 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract... |
OMIM:620152 |
Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Macular dege... |
OMIM:120330 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... |
OMIM:619263 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cataract, Buphthalmos, Retinal dystrophy |
ORPHA:370997 |
Retinitis Pigmentosa 60 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi... |
OMIM:613983 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Nephronophthisis 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... |
OMIM:618314 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... |
ORPHA:364055 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy, Iris cyst |
OMIM:620086 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Retinitis Pigmentosa 72 |
|
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone... |
OMIM:616469 |
Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Glaucoma, Corneal keratic precipitates, Epiretinal membrane, Retina... |
ORPHA:263479 |
Gyrate Atrophy Of Choroid And Retina |
|
Macular thickening, Posterior subcapsular cataract, Chorioretinal atrophy, Foveoschisis |
OMIM:258870 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... |
ORPHA:276621 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Quadriceps muscle atrophy, Calf muscle hyper... |
OMIM:611307 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles,... |
ORPHA:399081 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... |
OMIM:604307 |
Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Posterior subcapsular cataract, Nuclear cataract, Pigmentary retino... |
OMIM:611131 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Foot dorsiflexo... |
OMIM:619216 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Glaucoma, Microphthalmia, Buphthalmos, Retinal dystrophy |
OMIM:616538 |
Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Lesch-Nyhan Syndrome |
|
Hematuria, Gout, Renal insufficiency |
ORPHA:510 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... |
OMIM:123320 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Obesity, Abnormal retinal morphology on macular OCT, Proteinuria, Increased blood ... |
ORPHA:251004 |
Microphthalmia, Isolated 8 |
|
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... |
OMIM:615113 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachme... |
OMIM:613310 |
Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
ORPHA:270 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Hypertension |
OMIM:189800 |
Cerebral Cavernous Malformations |
|
Retinal vascular malformation, Cerebral cavernous malformation, Intracranial hemorrhage, Seizure |
OMIM:116860 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Bardet-Biedl Syndrome 17 |
|
Obesity, Stage 5 chronic kidney disease, Cone/cone-rod dystrophy, Retinal degeneration, Renal cys... |
OMIM:615994 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Dilated fourth ventr... |
ORPHA:171680 |
Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Hem... |
ORPHA:853 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Optic atrophy, Rod-cone dystrophy, Subcapsular cataract |
OMIM:612674 |
Non-Functioning Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges... |
ORPHA:94080 |
Foveal Hypoplasia 2 |
|
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia |
OMIM:609218 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis, Retinal degeneration |
OMIM:614845 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Failure to thrive, Atherosclerosis, Recurrent urinary tract infection... |
ORPHA:93598 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Proteinuria, Hematuria, Hypertension, Abnormal renal physiology |
OMIM:123550 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Merrf |
|
Optic atrophy, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Muscle fiber atrophy, Stage 5 ... |
ORPHA:228302 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio... |
OMIM:617547 |
Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... |
OMIM:614377 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... |
OMIM:263300 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Urethral stricture... |
OMIM:226670 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Microcephaly, ... |
OMIM:618736 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
Microphthalmia/Coloboma 5 |
|
Chorioretinal coloboma, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma |
OMIM:611638 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... |
OMIM:617610 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Pigmentary retinopathy, Left ventricular systolic dysfunction, Elevated circu... |
OMIM:613156 |
Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... |
ORPHA:97362 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Proximal am... |
OMIM:500002 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urethriti... |
ORPHA:449395 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... |
OMIM:181350 |
Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Weight loss, Elevated circulating C-rea... |
ORPHA:49041 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome, Decreased level of coenzyme Q10 in skeletal muscle, Hypoalbuminemia |
OMIM:614652 |
Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency |
ORPHA:3327 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Retinitis Pigmentosa 40 |
|
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... |
OMIM:613801 |
Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... |
ORPHA:1652 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... |
OMIM:617056 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Developmental glaucoma, Developmental cataract |
ORPHA:101005 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Elevated ... |
ORPHA:439232 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... |
ORPHA:39044 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Microphthalmia, Flexion co... |
OMIM:614833 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... |
ORPHA:280921 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
Sneddon Syndrome |
|
Nephropathy, Arterial stenosis, Hypertension, Intracranial hemorrhage |
ORPHA:820 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane |
OMIM:148200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Ventriculomegaly, Retinal dysplasia, Muscular dystrophy, Hypoplasia of the brainstem, Hypoplasia ... |
OMIM:614643 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:266900 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Myopathy, Retinal vascular tortuosity, Retinal telangiectasia |
ORPHA:104 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Sneddon Syndrome |
|
Livedo, Seizure, Cutis marmorata, Ischemic stroke, Livedo racemosa, Stroke, Livedo reticularis, C... |
OMIM:182410 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
Distal Deletion 6P |
|
Glaucoma, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior cham... |
ORPHA:96125 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Retinal capillary hemangioma, Elevated urinary dopamine level, Elevated urinary norepinephrine le... |
ORPHA:29072 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Optic atrophy, Glaucoma, Peters anomaly, Megalocornea, Retinal atrophy, Retinal detachm... |
OMIM:236670 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Microcornea, Increased axial length of the globe, Chorioretinal coloboma, Optic disc coloboma, Ma... |
OMIM:602499 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber |
ORPHA:3214 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Optic disc hypoplasia, Agenesis of corpus callosum |
OMIM:182230 |
Woolly Hair |
|
Cataract, Abnormal pupil morphology, Abnormal retinal morphology |
ORPHA:170 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Pulmonary hemorrhage, Renal... |
ORPHA:93126 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal exudate, Gastrointestinal hemorrhage, Macular edema, Punctate vasculitis skin lesions, He... |
OMIM:192315 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
Birdshot Chorioretinopathy |
|
Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret... |
ORPHA:179 |
Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Retinit... |
OMIM:615862 |
Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
Cutis Marmorata Telangiectatica Congenita |
|
Glaucoma, Telangiectasia, Leukocoria, Retinal detachment, Hypertension |
OMIM:219250 |
Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hypotension, Increased urinary potassium, Impa... |
OMIM:607364 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Seizure, Cerebral hemorrhage |
ORPHA:324713 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Hypoplasia of the pons, Cerebral atrophy, Retinopathy, Cerebellar hypoplasia, Micr... |
OMIM:616171 |
Retinopathy Of Prematurity |
|
Cataract, Vitreous hemorrhage |
ORPHA:90050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Muscular dystrophy, Hypoplasia of the brainstem, Hypoplasia of the ... |
OMIM:613155 |
Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... |
ORPHA:36382 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis, Retinal degeneration |
OMIM:613615 |
Al Amyloidosis |
|
Hypoalbuminemia, Macroglossia, Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension... |
ORPHA:85443 |
Spastic Paraparesis And Deafness |
|
Hypogonadism, Cataract |
OMIM:312910 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Retinal degeneration, Renal cyst, Rod-cone dystrophy, Abnormality of the kidney |
OMIM:615982 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Glaucoma, Optic atrophy, Buphthalmos, Developmental glaucoma |
ORPHA:99956 |
Myh9-Related Disease |
|
Nephropathy, Nephritis, Bruising susceptibility, Renal insufficiency, Spontaneous, recurrent epis... |
ORPHA:182050 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Serositis, ... |
ORPHA:231111 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
Hec Syndrome |
|
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Abnormal retinal vascular morphology, Deve... |
ORPHA:2119 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts |
ORPHA:3033 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Retin... |
OMIM:613550 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Abnormal renal tu... |
ORPHA:1909 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Seizure, Cerebral hemorrhage |
OMIM:603285 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Micr... |
OMIM:278730 |
Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Optic atrophy, Retinal arteriolar constriction, Renal insufficiency, Diffuse mesangial sclerosis,... |
OMIM:249660 |
Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Small for gestational age, Congenital nephrotic syndrome, Renal insufficiency, H... |
OMIM:256300 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Polyuria |
OMIM:222100 |
Rhabdoid Tumor |
|
Hematuria, Hypertension, Weight loss, Internal hemorrhage, Renal neoplasm, Hypercalcemia |
ORPHA:69077 |
Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Petechiae, Hematuria, Proteinuria, ... |
ORPHA:91138 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... |
ORPHA:54 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis, Rod-cone dystrophy |
ORPHA:140976 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... |
OMIM:615244 |
Distal Nebulin Myopathy |
|