Fingerprint Body Myopathy |
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Myopathy |
OMIM:305550 |
Scapuloperoneal myopathy, myh7-related |
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Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities |
OMIM:181430 |
Batten-Turner Congenital Myopathy |
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Myopathy |
OMIM:255300 |
Carnitine Deficiency, Myopathic |
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Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
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Myopathy |
ORPHA:88635 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
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Myopathy |
OMIM:212130 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Corneal scarring, Retinal dystrophy, Macular atrophy, Glaucoma, Buphthalmos, Cataract, Iris colob... |
OMIM:212550 |
Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Glau... |
OMIM:221900 |
Peters Anomaly |
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Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Anterior Segment Dysgenesis 5 |
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Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Cataract 3, Multiple Types |
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Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
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Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Cataract 10, Multiple Types |
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Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
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Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
Hanac Syndrome |
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Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Nephrotic Syndrome, Type 16 |
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Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Nephrotic Syndrome, Type 17 |
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Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
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Hematuria, Hypertension, Proteinuria, Renal insufficiency, Focal segmental glomerulosclerosis |
OMIM:607832 |
Norrie Disease |
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Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Persistent Hyperplastic Primary Vitreous |
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Hemorrhage of the eye, Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasi... |
ORPHA:91495 |
Hemoglobin D Disease |
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Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Pupillary Membrane, Persistence Of |
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Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Iga Nephropathy, Susceptibility To, 2 |
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IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:613944 |
Infundibulopelvic Dysgenesis |
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Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Autosomal Dominant Keratitis |
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Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Glomerulopathy With Fibronectin Deposits 2 |
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Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular deposits, Hyp... |
OMIM:601894 |
Myopathy, Distal, 5 |
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Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
Focal Segmental Glomerulosclerosis 6 |
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Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 5 |
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Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Mitochondrial Myopathy, Lethal, Infantile |
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Myopathy |
OMIM:551000 |
Glomerulopathy With Fibronectin Deposits 1 |
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Glomerulopathy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Nephropathy, Pr... |
OMIM:137950 |
Diamond-Blackfan Anemia-Like |
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Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Aniridia 1 |
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Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... |
OMIM:106210 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
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Myopathy |
ORPHA:206599 |
Retinitis Pigmentosa 13 |
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Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
C3 Glomerulopathy 3 |
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Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
Iga Nephropathy, Susceptibility To, 3 |
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IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Mesang... |
OMIM:616818 |
Diamond-Blackfan Anemia 19 |
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Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Primary Membranoproliferative Glomerulonephritis |
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Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Acetyl-Coa Carboxylase Deficiency |
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Myopathy |
OMIM:613933 |
Glaucoma, Primary Closed-Angle |
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Angle closure glaucoma, Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Iga Nephropathy, Susceptibility To, 1 |
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IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:161950 |
Glaucoma 3, Primary Congenital, D |
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Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Renal Failure, Progressive, With Hypertension |
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Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Proteinuria, Micros... |
OMIM:161900 |
Nail-Patella-Like Renal Disease |
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Glomerulopathy, Renal insufficiency, Hypertension, Proteinuria, Microscopic hematuria |
ORPHA:2613 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Microcornea, Glaucoma, And Absent Frontal Sinuses |
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Glaucoma, Microcornea |
OMIM:156700 |
Cataract 20, Multiple Types |
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Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Microphthalmia, Isolated, With Coloboma 4 |
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Coloboma, Microphthalmia, Microcornea |
OMIM:251505 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
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Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
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Band-shaped corneal dystrophy |
OMIM:217500 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
Exudative Vitreoretinopathy 4 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Cataract 21, Multiple Types |
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Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Posterior Polymorphous Corneal Dystrophy |
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Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Corneal Dystrophy, Lisch Epithelial |
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Corneal dystrophy |
OMIM:300778 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
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Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
Complement Factor H Deficiency |
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Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... |
OMIM:609814 |
Edict Syndrome |
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Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Hypertension, Serositis... |
ORPHA:567544 |
Stargardt Disease 1 |
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Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Nephrotic Syndrome, Type 12 |
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Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
Microphthalmia, Isolated, With Cataract 1 |
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Cataract, Microphthalmia |
OMIM:156850 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
X-Linked Corneal Dermoid |
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Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Polycystic ovaries, Prot... |
OMIM:608709 |
Transient Erythroblastopenia Of Childhood |
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Transient erythroblastopenia, Anemia |
OMIM:227050 |
Nonaka Myopathy |
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Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... |
OMIM:605820 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Hypertrophic Neuropathy And Cataract |
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Cataract |
OMIM:239900 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
C3 Glomerulopathy |
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Central serous chorioretinopathy, Glomerular extracapillary hypercellularity, Nephrotic syndrome,... |
ORPHA:329918 |
Focal Segmental Glomerulosclerosis 2 |
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Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental gl... |
OMIM:603965 |
Cataract 40 |
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Sutural cataract, Nuclear cataract |
OMIM:302200 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
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Retinal hemorrhage, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Hematuria, Raynau... |
OMIM:611773 |
Delta-Beta-Thalassemia |
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Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Cataract-Microcornea Syndrome |
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Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
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Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
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Ectopia lentis |
OMIM:129600 |
Galloway-Mowat Syndrome 8 |
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Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
Nemaline Myopathy 6 |
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Skeletal muscle atrophy, Nemaline bodies, Myopathy, Limb muscle weakness |
OMIM:609273 |
Nephrotic Syndrome, Type 23 |
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Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Iridocorneal Endothelial Syndrome |
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Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Exudative Vitreoretinopathy 1 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Focal Segmental Glomerulosclerosis 8 |
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Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 18 |
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Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
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Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
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Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Fibronectin Glomerulopathy |
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Glomerulopathy, Renal insufficiency, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Abnor... |
ORPHA:84090 |
Polycystic Kidney Disease 7 |
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Renal interstitial fibrosis, Stage 5 chronic kidney disease, Hypertension, Renal atrophy, Multipl... |
OMIM:620056 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
Hematuria, Benign Familial, 1 |
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Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Lipoprotein Glomerulopathy |
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Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Cataract 35 |
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Cataract |
OMIM:609376 |
Cataract 36 |
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Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
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Cataract |
OMIM:115800 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
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Myopathy, Autophagic vacuoles |
OMIM:609500 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
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Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Distal Myopathy, Welander Type |
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Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Stickler Syndrome Type 2 |
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Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria, Gastrointestinal hemorrhage |
OMIM:106070 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Aniridia 3 |
|
Cataract, Glaucoma |
OMIM:617142 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615987 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Abnormal bleeding, Hematuria |
OMIM:314000 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Glaucoma, Cataract, Iris coloboma, Corneal opacity, Chorior... |
ORPHA:1473 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Myopathy With Giant Abnormal Mitochondria |
|
Myopathy, Limb-girdle muscle atrophy |
OMIM:255140 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Purpura, Mesangial ... |
OMIM:613496 |
Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vasculitis, Vitreous f... |
ORPHA:279914 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Muscular dystrophy, Hydrocephalus, Optic nerv... |
OMIM:615181 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Glaucoma, Hypoplastic iris stroma, Peter... |
OMIM:601631 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Glauc... |
OMIM:177650 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Aortic root aneurysm, Recurrent urinary tract infections, Stage 5 chronic kidne... |
ORPHA:730 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Failure to thrive, Polyuri... |
OMIM:616963 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Rod-cone dystrophy, Polyuria, Nephronophthisis |
OMIM:606996 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Microphthalmia, Cataract |
OMIM:610092 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Corneal opacity, Microcornea |
ORPHA:2432 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility |
OMIM:300719 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract, Glaucoma |
ORPHA:792 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Abnormality of retinal pigmentation, Nephropathy, Chorioretinal coloboma, Macular colo... |
ORPHA:2196 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Hematuria, Hypertension, Nephropathy, Proteinuria |
OMIM:105200 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Optic nerve hypoplasia, Dysplastic corpus callosum, Agenesis of corp... |
ORPHA:250972 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Glaucoma, Cataract, Retinal detachme... |
ORPHA:190 |
Bethlem Myopathy 1 |
|
Camptodactyly of finger, Limb-girdle muscle weakness, Torticollis, Elbow flexion contracture, Myo... |
OMIM:158810 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Ventriculomegaly, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unila... |
ORPHA:137902 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Stage 5 chronic kidney disease, Elevated circulating creatine kinas... |
OMIM:614455 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... |
OMIM:143880 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma |
OMIM:231300 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Cardiomyopathy, Muscular dystrophy, Abnormal EKG |
OMIM:309930 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma |
OMIM:187501 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Arthritis, Hematuria, Purpura, Proteinuria, Retinal detachment, Renal insufficien... |
ORPHA:375 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Glaucoma, Peripheral retinal detachment |
OMIM:147610 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Rod-cone dystrophy, Stage 5 chronic kidney disease |
OMIM:609254 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Ventriculomegaly, Optic atrophy, Cerebella... |
ORPHA:370959 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract |
OMIM:604219 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Renal dysplasia, Stage 5 chronic kidney disease, Retinal degeneration, Renal ... |
OMIM:615993 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia, Developmental cataract |
OMIM:610623 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Hypertension, Proteinuria |
ORPHA:2820 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Idiopathic Anterior Uveitis |
|
Macular edema, Posterior synechiae of the anterior chamber, Glaucoma, Posterior subcapsular catar... |
ORPHA:280914 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea |
OMIM:615458 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Stroke, Myocardial infarction, Proteinuria, Arrhythmia, Renal ins... |
ORPHA:54057 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Agenesis of corpu... |
OMIM:218670 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Colitis,... |
OMIM:617006 |
Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated ci... |
OMIM:619468 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Aminoaciduria |
OMIM:204730 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Hematuria, Intracranial hemorrhage, Delayed onset bleeding, Cep... |
ORPHA:98879 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Cataract 42 |
|
Cataract, Glaucoma, Developmental cataract |
OMIM:115900 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, I... |
ORPHA:325 |
Moderate Hemophilia A |
|
Hip contracture, Subcutaneous hemorrhage, Epidural hemorrhage, Synovitis, Hematuria, Intracranial... |
ORPHA:169805 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... |
ORPHA:414 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Myopathy, Microscopic hematuria |
ORPHA:79087 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Hematuria, Intracranial hemorrhage, Bru... |
ORPHA:326 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pos... |
OMIM:300424 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Chorioretinal coloboma |
OMIM:120433 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
Congenital Primary Aphakia |
|
Congenital aphakia, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior ... |
ORPHA:83461 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy |
ORPHA:1878 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Hypertension, Hyperlipidemia, Proteinuria, Focal segmental glomer... |
OMIM:603278 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Nathalie Syndrome |
|
Cataract, Arrhythmia |
ORPHA:2663 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... |
ORPHA:209959 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... |
OMIM:600132 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Renal cyst, Peripheral pulm... |
OMIM:610205 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Ventriculomegaly, Cerebellar hypoplasia, Muscular dystrophy, Hydrocephalus, Retinal dysplasia, Mi... |
OMIM:614830 |
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, 2 |
|
Macular degeneration |
OMIM:153800 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Primary microcephaly, Retinal dysplasia, P... |
OMIM:615771 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation, Optic nerve hypopl... |
OMIM:618890 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomeru... |
ORPHA:567546 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... |
OMIM:230400 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Hyperuricemia, Renal salt wasting, Failure to thrive, Increased ... |
OMIM:613845 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin... |
ORPHA:567548 |
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 |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Seizure, Cerebral hemorrhage, Cerebral cavernous malformation, Stroke |
OMIM:603284 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... |
OMIM:217300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia, Microcephaly |
OMIM:616335 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Glaucoma, Ectopia lentis, Shallow ante... |
OMIM:613195 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,... |
ORPHA:63 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Micr... |
ORPHA:1528 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Myopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Glaucoma, Increased cup-to-disc ratio |
OMIM:617272 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Retinal dystrophy, Hypertension, Abnormality of retinal pigmentat... |
ORPHA:3156 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Papillorenal Syndrome |
|
Macular degeneration, Mild proteinuria, Optic disc coloboma, Nephrolithiasis, Vesicoureteral refl... |
OMIM:120330 |
Neovascular Glaucoma |
|
Iris neovascularization, Retinal vascular proliferation, Corneal stromal edema, Abnormal optic ne... |
ORPHA:94058 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
Severe Hemophilia A |
|
Persistent bleeding after trauma, Epidural hemorrhage, Synovitis, Intracranial hemorrhage, Bruisi... |
ORPHA:169802 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619263 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Gyrate Atrophy Of Choroid And Retina |
|
Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy, Macular thickening |
OMIM:258870 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak... |
OMIM:611307 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... |
OMIM:248250 |
Hyperferritinemia With Or Without Cataract |
|
Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... |
OMIM:613092 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation ... |
OMIM:615233 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... |
OMIM:615113 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Amyotrophy of ankle musculature, Abnormality of the calf musculature, Weakness of the intrinsic h... |
ORPHA:399081 |
Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Stage 5 chronic kidney disease, Retinal degeneration... |
OMIM:615994 |
Lesch-Nyhan Syndrome |
|
Gout, Renal insufficiency, Hematuria |
ORPHA:510 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Cataract 17, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea |
OMIM:611544 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Retinal dystrophy, Buphthalmos, Cataract |
ORPHA:370997 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Glaucoma, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Posterior subcapsular cataract, Nuclear cataract, Cystoid macular degeneratio... |
OMIM:611131 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Hypoplasia of the brainstem, Ventriculomegaly, Aganglionic megacolon, O... |
ORPHA:171680 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... |
OMIM:613310 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal retinal morphology on macular OCT, Enlarged kidney, Membranoproliferative glomerulonephr... |
ORPHA:251004 |
Cataract 2, Multiple Types |
|
Developmental cataract, Microcornea, Aculeiform cataract, Nuclear cataract, Nuclear pulverulent c... |
OMIM:604307 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, EMG: myopathic abnormalities, Foot dorsiflexor weakness, Distal lower limb m... |
OMIM:619216 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:276621 |
Cerebral Cavernous Malformations |
|
Retinal vascular malformation, Seizure, Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Retinal dystrophy, Glaucoma, Buphthalmos, Cataract, Microphthalmia |
OMIM:616538 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Hypertension |
OMIM:189800 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro... |
OMIM:613156 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Lower limb mu... |
OMIM:300695 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Optic nerve hypoplasia, Hypoplasia of th... |
OMIM:618736 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Rod-cone dystrophy, Subcapsular cataract, Optic atrophy |
OMIM:612674 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Nephronophthisis 15 |
|
Nephronophthisis, Retinal degeneration, Obesity |
OMIM:614845 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Dysplastic corpus call... |
OMIM:614833 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Abnormal bleeding, Purpura, Hematuria, Intracranial hemorrhage, Ecchymosis, Cephalohem... |
ORPHA:853 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration, Microphthalmia |
OMIM:251700 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease |
OMIM:123550 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Retinal dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:617547 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, At... |
ORPHA:93598 |
Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Nephrotic Syndrome, Type 10 |
|
Steroid-resistant nephrotic syndrome, Minimal change glomerulonephritis, Podocyte foot process ef... |
OMIM:615861 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:94080 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Renal insufficiency, Nephritis |
ORPHA:3327 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma, Microphthalmia |
OMIM:614497 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Optic atrophy |
ORPHA:551 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glo... |
OMIM:614377 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy |
OMIM:615434 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome |
ORPHA:69063 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Small for ges... |
ORPHA:97362 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Reduc... |
OMIM:617610 |
Scheie Syndrome |
|
Retinal degeneration, Glaucoma, Aortic regurgitation, Corneal opacity, Aortic valve stenosis |
OMIM:607016 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Developmental glaucoma, Developmental cataract |
ORPHA:101005 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset... |
OMIM:601764 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Muscular dystrophy, Hydroce... |
OMIM:614643 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Pro... |
OMIM:500002 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... |
OMIM:181350 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612926 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalize... |
ORPHA:306 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding follow... |
ORPHA:35909 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Optic atrophy, Developmental cataract |
ORPHA:2572 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome |
OMIM:614652 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation, Hyperuricemia, Renal cyst, Gout, Nephropathy, Elevated circulating creatinin... |
OMIM:617056 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Igg4-Related Retroperitoneal Fibrosis |
|
Large vessel vasculitis, Psoriasiform dermatitis, Weight loss, Acute kidney injury, Deep dermal p... |
ORPHA:49041 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Retinopathy, Abnormal chorioretinal morphology, Congestive heart failure, Hyperte... |
ORPHA:225 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Coats Disease |
|
Leukocoria, Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia |
OMIM:148200 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Muscular dystrophy, Increased urinary glycerol, Myopathy, Hypertriglyc... |
OMIM:307030 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Macular edema, Retinal exudate, Punctate vasculitis skin lesi... |
OMIM:192315 |
Bartter Syndrome, Type 3 |
|
Hypotension, Abnormal choroid morphology, Hypokalemia, Abnormal retinal vascular morphology, Rena... |
OMIM:607364 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Seizure, Hypertension, Cutis marmorata, Livedo reticularis,... |
OMIM:182410 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Retinal dystrophy, Thickeni... |
OMIM:266900 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Sneddon Syndrome |
|
Hypertension, Nephropathy, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Myopathy, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Leukocoria, Hypertension, Glaucoma, Retinal detachment |
OMIM:219250 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Hypertension... |
OMIM:615862 |
Al Amyloidosis |
|
Weight loss, Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, ... |
ORPHA:85443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Optic atrophy, Retinal atrophy, Glaucoma, Optic nerve hypoplasia, Buphthalmos, Cata... |
OMIM:236670 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612924 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Rhyns Syndrome |
|
Nephronophthisis, Rod-cone dystrophy, Multicystic kidney dysplasia |
ORPHA:140976 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Petechiae, Hematuria, Elevated circulating creatine kinase concentration, Pericarditi... |
ORPHA:231111 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Glauco... |
ORPHA:96125 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Coronary arter... |
ORPHA:439232 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis, Retinal degeneration |
OMIM:613615 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Flexion contracture, Hypoplasia of the brainstem, Calf muscle hypertrophy, Muscular dystrophy, Ce... |
OMIM:613155 |
Glanzmann Thrombasthenia |
|
Spontaneous, recurrent epistaxis, Purpura, Bruising susceptibility, Ecchymosis, Prolonged bleedin... |
ORPHA:849 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... |
OMIM:608358 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Rhabdoid Tumor |
|
Weight loss, Hematuria, Hypertension, Internal hemorrhage, Renal neoplasm, Hypercalcemia |
ORPHA:69077 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Seizure, Cerebral hemorrhage |
ORPHA:324713 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
Familial Cervical Artery Dissection |
|
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... |
ORPHA:36382 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Abnormality of the kidney, Retinal degeneration, Renal cyst, Obesity |
OMIM:615982 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Retinal dege... |
OMIM:613550 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Bilateral tonic-clonic seizure with focal onset, Apnea, Bilateral tonic-clonic seizure,... |
OMIM:607745 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Hec Syndrome |
|
Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm... |
ORPHA:2119 |
Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Cerebellar hypoplasia, Macular atrophy, Hypoplasia of the pons, Parti... |
OMIM:616171 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Scleritis, Small... |
ORPHA:93126 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract,... |
OMIM:278730 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Seizure, Cerebral hemorrhage |
OMIM:603285 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Nephritis, Bruising susceptibility, Myocardial infarction, Neph... |
ORPHA:182050 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... |
ORPHA:54 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... |
ORPHA:424107 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... |
ORPHA:29072 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy, Nephrotic syndrome, Diffuse mesangial sclerosis, ... |
OMIM:249660 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis |
ORPHA:3033 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Petechiae, Arthritis, Keratoconjunctivitis sicca, Hematuria, Purpura, Viral hepat... |
ORPHA:91138 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Developmental glaucoma, Optic atrophy, Glaucoma, Buphthalmos, Cataract |
ORPHA:99956 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Abnormal bleeding, Miscarriage, Epistaxis, Gingival bleeding, Menometrorrhagia |
ORPHA:98880 |
Preeclampsia |
|