Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... |
ORPHA:567544 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
Nephrotic Syndrome, Type 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... |
OMIM:256370 |
Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... |
ORPHA:75377 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Colitis, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... |
ORPHA:97341 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... |
OMIM:608051 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis |
OMIM:249660 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... |
OMIM:601894 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... |
OMIM:303100 |
Leber Congenital Amaurosis 13 |
|
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... |
OMIM:612712 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Decrease... |
OMIM:613496 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... |
OMIM:608709 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Visual impairment, Abnormal retinal vascular morphology, Ret... |
ORPHA:1852 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation, Metamorphopsia |
OMIM:233800 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level, Hematuria |
OMIM:314000 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Retinitis Pigmentosa 39 |
|
Visual field defect, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigme... |
OMIM:613809 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation, Visual impairment |
ORPHA:1995 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent pneumonia, Renal insuffic... |
OMIM:613779 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... |
OMIM:600995 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... |
OMIM:256300 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Photophobia, Granular macular appearance, Abnormality o... |
ORPHA:75376 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... |
OMIM:609814 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... |
OMIM:180210 |
Bothnia Retinal Dystrophy |
|
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... |
ORPHA:85128 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... |
OMIM:619155 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... |
ORPHA:54370 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... |
ORPHA:41751 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617730 |
Retinitis Pigmentosa 30 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... |
OMIM:607921 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
C1Q Deficiency |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Hematuria, Benign Familial |
|
Thin glomerular basement membrane, Hematuria |
OMIM:141200 |
Progressive Cone Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect |
ORPHA:1871 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Retinitis Pigmentosa 47 |
|
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment |
OMIM:613758 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... |
OMIM:304020 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... |
OMIM:619263 |
Retinitis Pigmentosa 33 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... |
OMIM:610359 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... |
OMIM:618348 |
Choroideremia |
|
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... |
ORPHA:180 |
Achromatopsia |
|
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... |
ORPHA:49382 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
OMIM:619609 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Visual field defect, Congenital stationary night blindness |
OMIM:610445 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
Retinitis Pigmentosa 32 |
|
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... |
OMIM:609913 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, H... |
ORPHA:84090 |
Cone Rod Dystrophy |
|
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment |
ORPHA:1872 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... |
OMIM:600138 |
Blue Cone Monochromatism |
|
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Blue cone monochromacy |
ORPHA:16 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment, Myopia |
ORPHA:1574 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Reversible renal failure, Anterior uveitis, Elevated circulating creatinine concentra... |
OMIM:607665 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic... |
OMIM:603278 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:617123 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomerulosclerosis, ... |
OMIM:617575 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... |
OMIM:614196 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, High hypermetropia, Abnormal choroid morphology |
ORPHA:35612 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... |
OMIM:611131 |
Retinitis Pigmentosa 54 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... |
OMIM:613428 |
Hydroxyprolinemia |
|
Hydroxyprolinemia, Microscopic hematuria |
OMIM:237000 |
Retinitis Pigmentosa 17 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... |
OMIM:600852 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy, Constriction of ... |
OMIM:615780 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Progressive visual loss, Macular scar, Drusen |
OMIM:615439 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy, Visual impairment, Myopia |
ORPHA:75373 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... |
OMIM:136550 |
Cone-Rod Dystrophy 16 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... |
OMIM:614500 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... |
ORPHA:827 |
Retinitis Pigmentosa 61 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... |
OMIM:614180 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Visual impairment, Macular degeneration |
OMIM:613827 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Visual impairment, Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... |
OMIM:619007 |
Retinitis Pigmentosa 7 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... |
OMIM:608133 |
Retinal Cone Dystrophy 4 |
|
Photophobia, Constriction of peripheral visual field, Retinal pigment epithelial mottling, Reduce... |
OMIM:610478 |
Retinitis Pigmentosa 19 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:601718 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
Complement Component 4A Deficiency |
|
Glomerulonephritis |
OMIM:614380 |
Macular Dystrophy, Retinal, 3 |
|
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... |
OMIM:608850 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Nyctalopia |
OMIM:179840 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... |
OMIM:605670 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment |
ORPHA:2246 |
Retinitis Pigmentosa 1 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:180100 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Skin rash, Nephropathy, Hematuria, Proteinuria |
OMIM:105200 |
Congenital Stationary Night Blindness |
|
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... |
ORPHA:215 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Visual field defect, Choroideremia, Color vision defect, Vitelliform-like macular lesions, Retina... |
ORPHA:99000 |
Retinitis Pigmentosa 2 |
|
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... |
OMIM:312600 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Microphthalmia, Isolated 5 |
|
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... |
OMIM:611040 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Retinitis Pigmentosa 4 |
|
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness |
OMIM:613731 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Retinitis Pigmentosa 28 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... |
OMIM:606068 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Retinitis Pigmentosa 92 |
|
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... |
OMIM:619614 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... |
OMIM:616414 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Retinitis Pigmentosa 9 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Macular a... |
OMIM:180104 |
Leber Congenital Amaurosis 9 |
|
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... |
OMIM:608553 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Retinal Cone Dystrophy 1 |
|
Photophobia, Retinal degeneration, Color vision defect, Cone/cone-rod dystrophy, Progressive visu... |
OMIM:180020 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Visual loss, Optic atrophy, Blindness |
OMIM:610951 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Blindness, Rod-cone dystrophy |
OMIM:551500 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Nyctalopia, Rod-co... |
OMIM:613801 |
Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Usher Syndrome, Type Iv |
|
Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of peripheral visual field, Retinal ... |
OMIM:618144 |
Retinitis Pigmentosa 3 |
|
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... |
OMIM:300029 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Blurred vision, Retinal ... |
ORPHA:411527 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... |
OMIM:618826 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Hypermetropia, Paravenous chorioretinal atrophy, Vitreor... |
OMIM:172870 |
Birdshot Chorioretinopathy |
|
Photophobia, Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macul... |
ORPHA:179 |
Cone-Rod Dystrophy 3 |
|
Color vision defect, Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod ... |
OMIM:604116 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Stargardt Disease 4 |
|
Reduced visual acuity, Macular degeneration, Retinal flecks |
OMIM:603786 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration, Visual impairment |
OMIM:618513 |
Actinic Prurigo |
|
Glomerulonephritis, Cheilitis, Pyoderma |
OMIM:174770 |
Retinitis Pigmentosa 6 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pigmentary retinopathy, ... |
OMIM:312612 |
Retinoschisis 1, X-Linked, Juvenile |
|
Hypermetropia, Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epi... |
OMIM:312700 |
Leber Congenital Amaurosis 2 |
|
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... |
OMIM:204100 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... |
ORPHA:567546 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Chorioretinal atrophy, Retinal detachment, Visual impairment, Myopia |
OMIM:600790 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal fold, Retinal hol... |
OMIM:605750 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Gout, Hematuria, Hyperuricemia |
ORPHA:510 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Chilblains, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Galactosemia I |
|
Increased level of galactitol in urine, Increased level of galactitol in red blood cells, Aminoac... |
OMIM:230400 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Peripheral Cone Dystrophy |
|
Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Optic atrophy, Opt... |
OMIM:609021 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Amblyopia, High myopia, Protanopia, ... |
OMIM:300843 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Reduced visual acuity, High hypermetropia, Retinal degeneration |
OMIM:617879 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Cone-Rod Dystrophy 2 |
|
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... |
OMIM:120970 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
Hereditary Xanthinuria |
|
Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infections, Xanthinuria, Hematuria, H... |
ORPHA:3467 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hema... |
ORPHA:93126 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... |
OMIM:600059 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:375 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Bone spicule ... |
OMIM:618697 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Visual loss, Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Retinitis Pigmentosa 51 |
|
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... |
OMIM:613464 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:203780 |
Acute Zonal Occult Outer Retinopathy |
|
Constriction of peripheral visual field, Retinal pigment epithelial mottling, Photopsia, Scotoma,... |
ORPHA:284454 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Leber Congenital Amaurosis 15 |
|
Hypermetropia, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Color vision defect, Retinop... |
OMIM:613843 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... |
ORPHA:63 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Fechtner syndrome |
|
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:153640 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Hypermetropia, Pigmentary retinopathy |
OMIM:268060 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... |
OMIM:194080 |
Retinitis Pigmentosa 12 |
|
High hypermetropia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal... |
OMIM:600105 |
Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... |
ORPHA:1652 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creatinine concentra... |
OMIM:614376 |
Retinitis Pigmentosa 41 |
|
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigme... |
OMIM:612095 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... |
ORPHA:449395 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
Wagner Vitreoretinopathy |
|
Visual field defect, Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chori... |
OMIM:143200 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Systemic Lupus Erythematosus |
|
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis |
OMIM:152700 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephrolithiasis, Nephropathy, Hematuria |
ORPHA:2196 |
Irvan Syndrome |
|
Photophobia, Reduced visual acuity, Macular edema, Retinal detachment, Blurred vision, Optic atro... |
ORPHA:209943 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... |
OMIM:300476 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nyctalopia, Nummular pigmentation of the fundus, Attenuation of retinal bl... |
OMIM:618613 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
Leber Congenital Amaurosis 8 |
|
High hypermetropia, Chorioretinal atrophy, Nummular pigmentation of the fundus, Reduced visual ac... |
OMIM:613835 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... |
OMIM:610984 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Gout, Elevated circulating creatini... |
ORPHA:79233 |
Retinitis Pigmentosa 50 |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... |
OMIM:613194 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Nephrotic syndrome, Elevated circulating C-reactive protein... |
OMIM:615559 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
Retinitis Pigmentosa 38 |
|
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... |
OMIM:613862 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field, R... |
OMIM:618173 |
Retinitis Pigmentosa 49 |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Opti... |
OMIM:613756 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, Myotonia, Myotonia of the ja... |
ORPHA:684 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis |
OMIM:619428 |
Cone-Rod Dystrophy 8 |
|
Photophobia, Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degene... |
OMIM:605549 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Visual impairment, Tractional retinal detachm... |
OMIM:613310 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Basal Laminar Drusen |
|
Progressive visual loss, Drusen |
OMIM:126700 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:364055 |
Leber Congenital Amaurosis 1 |
|
Photophobia, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Pigmentary ... |
OMIM:204000 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of retinal blood vessels... |
OMIM:612572 |
Retinitis Pigmentosa 58 |
|
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic... |
OMIM:613617 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... |
ORPHA:839 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... |
OMIM:314050 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Retinitis Pigmentosa 10 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... |
OMIM:180105 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Retinitis Pigmentosa 68 |
|
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia |
OMIM:615725 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... |
OMIM:617729 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Colonic eosinophilia, Membranous nephropathy |
OMIM:618999 |
Congenital Glaucoma |
|
Retinal detachment, Visual loss |
ORPHA:98976 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation, Myopia |
ORPHA:2743 |
Oculocutaneous Albinism Type 4 |
|
Photophobia, Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, ... |
ORPHA:79435 |
Chromosome 16Q12 Duplication Syndrome |
|
Photophobia, Nyctalopia, Tritanomaly, Retinal pigment epithelial mottling, Reduced visual acuity,... |
OMIM:619649 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Retinal Dystrophy And Obesity |
|
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... |
OMIM:616188 |
Retinitis Pigmentosa 66 |
|
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, O... |
OMIM:615233 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality ... |
ORPHA:93101 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Anemia, Abnormal bleeding, Thrombocytopenia, Impaired pl... |
OMIM:210250 |
Retinitis Punctata Albescens |
|
Photophobia, Progressive visual field defects, Absent foveal reflex, Cystoid macular edema, Abnor... |
ORPHA:52427 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis |
OMIM:260000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Retinitis Pigmentosa 43 |
|
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Opt... |
OMIM:613810 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia |
OMIM:615922 |
Retinitis Pigmentosa 45 |
|
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pe... |
OMIM:613767 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Morning Glory Disc Anomaly |
|
Amblyopia, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
Cone-Rod Dystrophy 15 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... |
OMIM:613660 |
Jalili Syndrome |
|
Photophobia, Abnormality of retinal pigmentation, Color vision defect, Optic atrophy, Visual impa... |
ORPHA:1873 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Reduced visual acuity, Visual impairment, Pigmentary retinopathy, Myopia |
OMIM:268050 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Central retinal vessel vascular tortu... |
ORPHA:506353 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Diprosopus |
|
Abnormality of retinal pigmentation, Abnormality of vision |
ORPHA:1681 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Abnormality of vision, Retinopathy |
ORPHA:1897 |
Retinitis Pigmentosa 56 |
|
Visual field defect, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retina... |
OMIM:613581 |
Cone-Rod Dystrophy 6 |
|
Photophobia, Hemeralopia, Nyctalopia, Chorioretinal atrophy, Reduced visual acuity, Progressive n... |
OMIM:601777 |
Retinitis Pigmentosa 72 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced vis... |
OMIM:616469 |
Cone-Rod Dystrophy 10 |
|
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood v... |
OMIM:610283 |
Senior-Loken Syndrome |
|
Progressive visual loss, Abnormality of retinal pigmentation, Visual impairment, Retinal dystrophy |
ORPHA:3156 |
Neovascular Glaucoma |
|
Photophobia, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Visual ac... |
ORPHA:94058 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... |
OMIM:612126 |
Cystinuria |
|
Nephrolithiasis, Hematuria, Hyperuricemia, Renal insufficiency |
ORPHA:214 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Arteriovenous malformation, Subcutaneous hemorrhage, Multicystic kidn... |
ORPHA:1556 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Renal cyst, Nephropathy, Hematuria |
OMIM:611773 |
Bladder Diverticulum |
|
Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Urinary he... |
OMIM:109820 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, High hypermetropia, Retinal pigment epithelial mottling,... |
OMIM:145350 |
Retinitis Pigmentosa 25 |
|
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretin... |
OMIM:602772 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Myopia |
ORPHA:1259 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepatitis, Abnormality of the ki... |
ORPHA:91139 |
Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:618347 |
Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
OMIM:612933 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Thyroiditis |
OMIM:619375 |
Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Maculopapular exanthem... |
OMIM:619644 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... |
ORPHA:251004 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Prolonged bleeding following circumcision, P... |
ORPHA:325 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Abnormal circulating lipid concentration |
ORPHA:225 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Proteinuria, Increased serum bile acid concentration, Hyperbilirub... |
OMIM:620010 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hypercalcemia, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Constriction of peripheral visual field, Chorioretinal atrophy, High myopia... |
OMIM:210370 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Glutamate-Cysteine Ligase Deficiency |
|
Ataxia, Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Retinal dystrophy, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria,... |
OMIM:300653 |
Frasier Syndrome |
|
Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... |
ORPHA:347 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusitis, Diffuse mesangi... |
OMIM:102700 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... |
ORPHA:1473 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Aplasia Cutis-Myopia Syndrome |
|
High myopia, Abnormality of retinal pigmentation |
ORPHA:1117 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Nyctalopia, Color vision defect, Retinal de... |
OMIM:193220 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Hemiplegia, Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Pa... |
ORPHA:136 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visua... |
OMIM:600132 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Increased blood urea nitrogen, Stroke, Abnormal renal physiology, Schi... |
OMIM:274150 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... |
ORPHA:93598 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Fasciculations, Head titubation... |
OMIM:615491 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglobinuria, Retinal dystrophy,... |
ORPHA:713 |
Sneddon Syndrome |
|
Hemiplegia, Lymphopenia, Stroke, Cerebral hemorrhage, Decreased circulating total IgM, Tremor, Hy... |
OMIM:182410 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Progressive visual loss, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hematuria, Arthritis, Renal insufficiency, Proteinuria, Glomerulopathy, Keratoco... |
ORPHA:91138 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Nyctalopia, Heterochro... |
ORPHA:1390 |
Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... |
ORPHA:36382 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... |
OMIM:308940 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular ac... |
OMIM:146255 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... |
OMIM:267760 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Nephropathy, Proteinuria |
ORPHA:220 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalcemia, Elevated urinary epinephrine, E... |
ORPHA:276621 |
Narp Syndrome |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mottling,... |
ORPHA:644 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Hypopro... |
OMIM:609049 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration, Constriction of peripheral visual field |
OMIM:520000 |
Retinitis Pigmentosa |
|
Photophobia, Blindness, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology... |
ORPHA:791 |
Systemic Sclerosis |
|
Chronic kidney disease, Osteomyelitis, Recurrent skin infections, Abnormality of the kidney, Elev... |
ORPHA:90291 |
Sjögren-Larsson Syndrome |
|
Photophobia, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Generalized ... |
ORPHA:816 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Bardet-Biedl Syndrome 3 |
|
Visual impairment, Pigmentary retinopathy, Rod-cone dystrophy, Nyctalopia |
OMIM:600151 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Hyperuricemia, Myotonia |
ORPHA:371 |
Oculocutaneous Albinism Type 1B |
|
Photophobia, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation ... |
ORPHA:79434 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... |
OMIM:155100 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Eales Disease |
|
Vitreous hemorrhage, Transient ischemic attack, Cystoid macular edema, Spastic paraparesis, Rhegm... |
ORPHA:40923 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
ORPHA:2364 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely reduced visual acuity |
ORPHA:65 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive visual ... |
OMIM:264420 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... |
OMIM:613673 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:251300 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Gout, Foca... |
OMIM:232240 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Fulminant hepatitis, Sclerosing cholangiti... |
ORPHA:2137 |
Revesz Syndrome |
|
Hypertonia, Ataxia, Megalocornea, Aplastic anemia, Leukocoria, Exudative retinopathy |
OMIM:268130 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... |
ORPHA:49041 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Cerebral palsy... |
ORPHA:53719 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... |
OMIM:212550 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Hyperu... |
OMIM:617056 |
Hypocomplementemic Urticarial Vasculitis |
|
Skin rash, Hematuria, Arthritis, Uveitis, Renal insufficiency, Proteinuria, Glomerulopathy, Episc... |
ORPHA:36412 |
Alport Syndrome 1, X-Linked |
|
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... |
OMIM:301050 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia |
ORPHA:35710 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cerebral hemorrhage, Leukocytosis, Congenital throm... |
OMIM:618886 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Retinopathy, Acute kid... |
ORPHA:673 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Al Amyloidosis |
|
Increased circulating antibody level, Nephrotic syndrome, Renal interstitial amyloid deposits, Ab... |
ORPHA:85443 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he... |
ORPHA:3226 |
Canavan Disease |
|
Optic atrophy, Visual impairment, Abnormality of retinal pigmentation, Blindness |
ORPHA:141 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... |
ORPHA:275555 |
Hellp Syndrome |
|
Cerebral hemorrhage, Hemoglobinuria, Hypotension, Hemolytic anemia, Acute kidney injury, Proteinu... |
ORPHA:244242 |
Retinitis Pigmentosa 73 |
|
Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy, Nyctalopia |
OMIM:616544 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Congestive heart failure, Positive regitine blocki... |
ORPHA:29072 |
Rhabdoid Tumor |
|
Hypercalcemia, Hematuria, Renal neoplasm |
ORPHA:69077 |
Abetalipoproteinemia |
|
Corneal ulceration, Ataxia, Babinski sign, Reticulocytosis, Hypopigmentation of the fundus, Abnor... |
ORPHA:14 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Hypertension, Hemiparesis, Schistocytosis, Elevate... |
OMIM:235400 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Retinal detachment, Visual loss |
ORPHA:171844 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Reduced visual acuity, Falcifor... |
OMIM:305390 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Elevat... |
ORPHA:36234 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury, Hyperkalemia |
OMIM:268200 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Arthritis, Hepatitis, Glomerulonephritis, Increased circulating IgE level, Erythroderma |
OMIM:304790 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperuricemia |
OMIM:232600 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,... |
OMIM:134600 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment |
ORPHA:1466 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... |
OMIM:237800 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Spasticity, Leukocoria |
ORPHA:2714 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Pancreatitis, Nephrotic range proteinuria, Impaired T cell function, Nephropathy,... |
ORPHA:1830 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Visual impairment, Pigmentary retinopathy, Rod-cone dystrophy, Constriction of peripheral visual ... |
OMIM:614307 |
Enhanced S-Cone Syndrome |
|
Hemeralopia, Nyctalopia, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Oculocutaneous Albinism Type 2 |
|
Photophobia, Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia... |
ORPHA:79432 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
Stickler Syndrome Type 2 |
|
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology, Myopia |
ORPHA:90654 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment |
ORPHA:1433 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Stroke, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage... |
ORPHA:449285 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia, Retinal detachment, Leukocoria |
OMIM:219250 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Discoid lupus rash, Nephrotic syndrome, Nephritis, Skin rash, Abnormality of the urin... |
ORPHA:93552 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Distal renal tubular acidosis... |
OMIM:611590 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Hematuria, Arthritis, Oliguria, Uveitis, Increas... |
ORPHA:727 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... |
ORPHA:897 |
Ectopia Lentis Et Pupillae |
|
High myopia, Retinal detachment, Persistent pupillary membrane |
OMIM:225200 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, Chorioretinal atrophy,... |
ORPHA:5 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... |
ORPHA:48435 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Late-Onset Retinal Degeneration |
|
Photophobia, Nyctalopia, Macular degeneration, Tritanomaly, Patchy atrophy of the retinal pigment... |
ORPHA:67042 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Increased urinary porphobilinogen, He... |
OMIM:618892 |
Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Abnormal inflammatory response, Pro... |
ORPHA:77297 |
Moyamoya Disease With Early-Onset Achalasia |
|
Stroke, Raynaud phenomenon, Abnormal platelet aggregation, Moyamoya phenomenon, Abnormal cerebral... |
ORPHA:401945 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal bleed... |
ORPHA:91547 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Mucopolysacchariduria, Nephrotic syndrome, Proteinuria |
OMIM:215250 |
Hyperkalemic Periodic Paralysis |
|
Hypertonia, Hypokalemia, Cerebral palsy, Elevated circulating creatine kinase concentration, Arrh... |
ORPHA:682 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Myoclonus, Elevated circulating creatine kinase concentration, Intraventricular he... |
OMIM:619055 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Elevated circulating creatine kinase concentration, Limb fasciculations, Tetraparesis, Frequent f... |
ORPHA:324442 |
Legionnaires Disease |
|
Pancreatitis, Endocarditis, Hematuria, Myocarditis, Hepatitis, Renal insufficiency, Hyponatremia,... |
ORPHA:549 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Dural Sinus Malformation |
|
Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Poor coordination, Papilledema, Abnor... |
ORPHA:97339 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... |
ORPHA:470 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... |
ORPHA:85445 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Nephropathy, Glycosuria, Conjugated ... |
OMIM:613404 |
Retinitis Pigmentosa 74 |
|