Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... |
OMIM:221900 |
Cataract 50 With Or Without Glaucoma |
|
Glaucoma, Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy |
OMIM:208100 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity |
ORPHA:73229 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Glaucoma, Me... |
OMIM:251750 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Drusen, Chronic kidney disease, Stage 5 ... |
ORPHA:54370 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Angle closure glaucoma |
OMIM:618880 |
Iga Nephropathy, Susceptibility To, 1 |
|
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA dep... |
OMIM:161950 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... |
OMIM:161900 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Microcornea, Glaucoma |
OMIM:156700 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Coloboma |
OMIM:251505 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Edict Syndrome |
|
Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomen... |
OMIM:611773 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... |
ORPHA:329918 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria, Gastrointestinal hemorrhage |
OMIM:106070 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst |
OMIM:615987 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Abnormal bleeding, Glomerulonephritis |
OMIM:314000 |
Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Glaucoma, Chorioretinal coloboma, M... |
ORPHA:1473 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Macular scar, Band keratopathy, Vitreous haze, Epiretinal membrane, V... |
ORPHA:279914 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, H... |
OMIM:615181 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Glaucoma, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters ano... |
OMIM:601631 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
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, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Senior-Loken Syndrome 4 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
X-Linked Retinoschisis |
|
Glaucoma, Retinoschisis, Cataract |
ORPHA:792 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Ag... |
ORPHA:250972 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility |
OMIM:300719 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... |
ORPHA:2196 |
Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy |
OMIM:105200 |
Bethlem Myopathy 1 |
|
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... |
OMIM:158810 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Glau... |
OMIM:309300 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl... |
OMIM:614455 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma |
OMIM:231300 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Carnosinuria |
OMIM:309930 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Retinal detachment, Proteinuria, Vasculitis, Hematuria, Arth... |
ORPHA:375 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Tetralogy Of Fallot And Glaucoma |
|
Developmental glaucoma |
OMIM:187501 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Iris Pigment Layer, Cleavage Of |
|
Glaucoma, Cataract, Peripheral retinal detachment |
OMIM:147610 |
Senior-Loken Syndrome 5 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre... |
OMIM:615993 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Retinal detachment, Calf muscle pseudohypertrophy, Hypoglycosylation of... |
ORPHA:370959 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramu... |
ORPHA:79 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
Craniotelencephalic Dysplasia |
|
Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:218670 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration |
OMIM:615458 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Arrhythmia, Acute kid... |
ORPHA:54057 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Muscular dystrophy |
OMIM:204730 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Cataract 42 |
|
Glaucoma, Cataract, Developmental cataract |
OMIM:115900 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Moderate Hemophilia A |
|
Abnormal bleeding, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Joint hemor... |
ORPHA:169805 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Microph... |
ORPHA:1528 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... |
OMIM:300424 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Myopathy |
ORPHA:79087 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Chorioretinal coloboma |
OMIM:120433 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, ... |
OMIM:615771 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Nathalie Syndrome |
|
Arrhythmia, Cataract |
ORPHA:2663 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Retinal dysplasia, Muscular dystrophy, Microphthalmia, Vent... |
OMIM:614830 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep... |
OMIM:618890 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Galactosemia I |
|
Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, Hypergalactose... |
OMIM:230400 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Glaucoma, Shallow anterior chamber, Posterior synechiae of the ante... |
OMIM:613195 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Seizure, Stroke, Cerebral cavernous malformation |
OMIM:603284 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia, Microcephaly |
OMIM:616335 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio, Glaucoma |
OMIM:617272 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chronic kidney disease, Stage 5 chronic k... |
ORPHA:3156 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Alport Syndrome |
|
Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru... |
ORPHA:63 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Gyrate Atrophy Of Choroid And Retina |
|
Macular thickening, Posterior subcapsular cataract, Foveoschisis, Chorioretinal atrophy |
OMIM:258870 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract, Retinal dystrophy |
ORPHA:370997 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norep... |
ORPHA:276621 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Am... |
ORPHA:399081 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Gout |
ORPHA:510 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... |
OMIM:619216 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... |
ORPHA:251004 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, Buphthalmos, Glaucoma, Microphthalmia |
OMIM:616538 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Stag... |
OMIM:615994 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... |
ORPHA:171680 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Seizure, Retinal vascular malformation, Cerebral cavernous malformation |
OMIM:116860 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
ORPHA:94080 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Skeletal m... |
OMIM:613156 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... |
OMIM:300695 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract |
OMIM:612674 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Microphtha... |
OMIM:614833 |
Nephronophthisis 15 |
|
Retinal degeneration, Obesity, Nephronophthisis |
OMIM:614845 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Myopathy |
OMIM:551500 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon |
OMIM:609218 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Hematur... |
ORPHA:853 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Agene... |
OMIM:618736 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Optic atrophy |
ORPHA:551 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology |
OMIM:123550 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Glaucoma, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple... |
ORPHA:306 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs |
ORPHA:3327 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom... |
OMIM:617610 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability... |
OMIM:226670 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Developmental glaucoma, Developmental cataract |
ORPHA:101005 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... |
OMIM:181350 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle, Proteinuria |
OMIM:614652 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Optic nerve hypopl... |
OMIM:614643 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal chorioretinal morphology, Congestive h... |
ORPHA:225 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Hashimoto thyroid... |
ORPHA:49041 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension, Arterial stenosis |
ORPHA:820 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Seizure, Cerebral hemorrhage, Purpura |
OMIM:614514 |
Sneddon Syndrome |
|
Cutis marmorata, Cerebral hemorrhage, Livedo reticularis, Livedo, Seizure, Hypertension, Ischemic... |
OMIM:182410 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Elevated circulating creatine kina... |
OMIM:613155 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Myopathy, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr... |
OMIM:236670 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation |
ORPHA:3214 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norep... |
ORPHA:29072 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im... |
OMIM:266900 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Increased axial length of the globe, Microcorn... |
OMIM:602499 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Nephronophthisis 18 |
|
Retinitis, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointersti... |
OMIM:615862 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Increased circulating NT-proBNP c... |
ORPHA:85443 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis |
ORPHA:140976 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria, Telangiectasia, Glaucoma, Hypertension |
OMIM:219250 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration, Nephronophthisis |
OMIM:613615 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Abeta Amyloidosis, Italian Type |
|
Seizure, Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Microcephaly, Hypoplasia of the pons, Partial agenesis of the... |
OMIM:616171 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Obesity, Renal cyst, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Hypertension, Internal hemorrhage |
ORPHA:69077 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoc... |
ORPHA:182050 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... |
ORPHA:2119 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte... |
OMIM:249660 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... |
ORPHA:1909 |
Cerebral Cavernous Malformations 3 |
|
Seizure, Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... |
OMIM:278730 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... |
OMIM:618347 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, V... |
ORPHA:91138 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Cataract, Developmental glaucoma, Optic atrophy, Buphthalmos, Glaucoma |
ORPHA:99956 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Glaucoma, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia... |
OMIM:267760 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myopathy |
OMIM:261670 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency, Rhabdomyolysis |
OMIM:255110 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Frontal... |
ORPHA:228384 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Subcapsular cataract, Rod-cone dystrophy |
OMIM:268020 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... |
OMIM:616730 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Ventriculomegaly, Microcephaly |
OMIM:613638 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Abn... |
ORPHA:90291 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... |
OMIM:162000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Glaucoma, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis sicca, Punctat... |
OMIM:617388 |
Microcoria, Congenital |
|
Glaucoma, Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Proteinuria, Apnea, Cerebral hemorrhage, Respiratory insufficiency, Seizure, Hy... |
OMIM:618886 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Aortic valve steno... |
OMIM:615382 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diffuse alveolar h... |
OMIM:614034 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis |
OMIM:278300 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol... |
ORPHA:416 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Menometrorrhagia, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Sinusitis, Epista... |
ORPHA:727 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Small for gestational age, Unilater... |
ORPHA:2260 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... |
OMIM:232800 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Retinal detachment, Rieger anomaly, Primary congenital glaucoma |
ORPHA:521445 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of t... |
OMIM:620157 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
Nephronophthisis 14 |
|
Retinal degeneration, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Transient ischemic attack, Small for gestational age, Minimal cha... |
ORPHA:1830 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... |
OMIM:274150 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Optic Atrophy 11 |
|
Optic nerve hypoplasia, Microcephaly, Optic atrophy, Increased variability in muscle fiber diamet... |
OMIM:617302 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I... |
ORPHA:136 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia |
OMIM:613517 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Cyanosis, Bilateral tonic-clonic seizure with focal onset, Apnea, Foca... |
OMIM:601764 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Ventriculomegaly, Agenesis of cerebellar vermis, Elevated circulating creatin... |
OMIM:613153 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Macular... |
OMIM:616629 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Myoclonus, Cerebral hemorrhage |
ORPHA:324708 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Rhabdomyolys... |
ORPHA:449285 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Flexion contract... |
ORPHA:272 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Cednik Syndrome |
|
Proteinuria, Congestive heart failure, Optic atrophy, Nephrotic syndrome, Stroke |
ORPHA:66631 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Poor wound healing, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after su... |
ORPHA:331 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy... |
OMIM:616733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... |
ORPHA:91139 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Retinal crystals, Calcium oxala... |
OMIM:259900 |
Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Corneal dystrophy, Corneal erosion, Glaucoma, Band-shaped corneal dy... |
OMIM:610048 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Bilateral tonic-clonic seizure, Recurrent myoglobinuri... |
OMIM:620300 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Retinal dysplasia, Microphthalmia, Congenital muscular dystrophy, Ventriculomegaly |
ORPHA:324416 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Glaucoma, Ectopia pupillae, Posterior synechiae of the anterior chamber, ... |
OMIM:602482 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Microphthalmia, Agenesis of corpus callosum |
OMIM:274270 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
Familial Infantile Bilateral Striatal Necrosis |
|
Optic atrophy, Astrocytosis, Upper limb muscle weakness, Atrophy/Degeneration involving the cauda... |
ORPHA:225154 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration,... |
ORPHA:91547 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Retinal dystrophy, M... |
OMIM:616307 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microphthalmia, Arthrogryposis ... |
OMIM:616570 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Failure to thrive, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Peripapil... |
OMIM:616188 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Abnormality of retinal pigmentation, Nephronophthisis |
ORPHA:474 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
X-Linked Intellectual Disability, Najm Type |
|
Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cerebellar hypoplasia, Chorioretinal colobom... |
ORPHA:163937 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Denys-Drash Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Megacystis, Polyuria |
OMIM:304800 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Hypospadias, Patent ductus arteriosus, Macroglossia, Aminoaciduria, Albuminuri... |
OMIM:214100 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Glomerulopathy, Vasculi... |
ORPHA:183 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... |
ORPHA:48435 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Apnea,... |
OMIM:607745 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria, Foam cells |
OMIM:245900 |
Joubert Syndrome 16 |
|
Retinal dystrophy, Renal cyst, Nephronophthisis |
OMIM:614465 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of... |
ORPHA:280679 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase... |
ORPHA:254886 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Arima Syndrome |
|
Proteinuria, Polyuria, Retinal dystrophy, Optic atrophy, Stage 5 chronic kidney disease, Hematuri... |
OMIM:243910 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Nance-Horan Syndrome |
|
Microcornea, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasia of the iris, Microp... |
ORPHA:290 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Arterial stenosis, Cerebral artery atherosclerosis, Nephrotic syndrome, Hypertension... |
ORPHA:1192 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Posterior subcapsular cataract |
OMIM:300619 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepin... |
OMIM:171420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Glaucoma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, He... |
ORPHA:99147 |
Stormorken Syndrome |
|
Abnormal bleeding, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid he... |
OMIM:185070 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Rhabdomyolysis, Ventricular tachycardia... |
OMIM:263800 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Bilateral tonic-clonic seizure, Abnormality of the upper urinary tract, Hypovolemia, R... |
ORPHA:99885 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Bilateral tonic-clonic seizure, Seizure, Generalized myoc... |
OMIM:616341 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Dpm3-Cdg |
|
Dilated cardiomyopathy, Stroke-like episode, Calf muscle hypertrophy, Muscular dystrophy, Pelvic ... |
ORPHA:263494 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Retinal dystrophy, Chronic kidney disease... |
ORPHA:261222 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Dilated card... |
OMIM:618348 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... |
OMIM:609284 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Achilles tend... |
OMIM:607155 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Pulmonary ven... |
ORPHA:90060 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Multiple renal cysts, Vascular dilatation, Increased total bilirubin |
ORPHA:2924 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy |
OMIM:615511 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies |
OMIM:618246 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, M... |
OMIM:617914 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... |
OMIM:601678 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... |
ORPHA:34515 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Lissencephaly 8 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Optic ... |
OMIM:617255 |
Nemaline Myopathy 7 |
|
Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ... |
OMIM:610687 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial... |
ORPHA:90068 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... |
ORPHA:97244 |
Nephroblastoma |
|
Hematuria, Hypertension, Nephroblastoma, Weight loss |
ORPHA:654 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Failu... |
OMIM:619858 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular... |
OMIM:613404 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154275 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Elevated circulating creatine kinase concentration, Abnormally large globe, Microcephaly, Hydroce... |
OMIM:615249 |
Joubert Syndrome 15 |
|
Retinopathy, Micropenis, Retinal dystrophy, Nephronophthisis |
OMIM:614464 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... |
ORPHA:31825 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Apnea, Seizure, Myoclonus, Cyanotic episode |
OMIM:610992 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomenon, Discoid lu... |
ORPHA:93552 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me... |
ORPHA:900 |
Sturge-Weber Syndrome |
|
Buphthalmos, Choroidal hemangioma |
OMIM:185300 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Microphthalmia |
OMIM:618805 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Perching Syndrome |
|
Respiratory distress, Rod-cone dystrophy, Cyanosis |
OMIM:617055 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscop... |
ORPHA:77297 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Congestive heart failure, Patent ductus arteriosus, Flexion contracture, Optic atrop... |
OMIM:617303 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hyperammonemia, Me... |
OMIM:251000 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Small for gestational age, Patent ductus arteriosus, Hematuria, Hypertension, S... |
OMIM:617021 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Corneal scarring, Buphthalmos, Pigmentary retinopathy, Glaucoma, Peters ... |
OMIM:618460 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Glaucoma, Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Gout, ... |
OMIM:232240 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar... |
ORPHA:36412 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Infertility |
OMIM:240950 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Isolated Aniridia |
|
Cataract, Glaucoma, Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Joubert Syndrome 7 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... |
ORPHA:99845 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Angle closure glaucoma, ... |
ORPHA:2788 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Myopathy, Cere... |
OMIM:243605 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Ragged-... |
OMIM:607426 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Proximal muscle weaknes... |
ORPHA:352479 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Microphthalmia |
ORPHA:85284 |
Leukoencephalopathy With Calcifications And Cysts |
|
Seizure, Stroke, Focal motor seizure, Cerebral hemorrhage |
ORPHA:542310 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Hyperlysinemia, Type I |
|
Anemia, Ectopia lentis |
OMIM:238700 |
Periventricular Nodular Heterotopia 1 |
|
Seizure, Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Ventriculomegaly, Facial hypotonia, Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
OMIM:618381 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurre... |
ORPHA:274 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ... |
ORPHA:71273 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Cornea... |
OMIM:158310 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal cotton wool spot, Proteinuria, Pneumonia, Skin rash, Weaknes... |
ORPHA:247691 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:65288 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Nephritis |
OMIM:274240 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia |
OMIM:314300 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode,... |
OMIM:300845 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... |
OMIM:158901 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Hypertension, Polycysti... |
OMIM:618061 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... |
OMIM:620010 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Progressive microcephaly, Cerebellar hyp... |
OMIM:300953 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Ragged... |
OMIM:616239 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia |
OMIM:310095 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Myopathy, Optic atrophy, Microcephaly |
ORPHA:26792 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, EMG: myopathic abnormalities, Viral infec... |
ORPHA:57 |
Glycogen Storage Disease V |
|
Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, ... |
OMIM:232600 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma |
OMIM:613094 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Exercise-induced myoglo... |
OMIM:300559 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... |
OMIM:613154 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Renal cyst, Small thenar eminence, Neonatal death, Hydronephrosis |
OMIM:613390 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditi... |
ORPHA:549 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Patent ductus arteriosus, Respiratory i... |
OMIM:617397 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies |
OMIM:615348 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypertension, Increased circulating renin le... |
OMIM:612780 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Miyoshi Muscular Dystrophy 3 |
|
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... |
OMIM:613319 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Microcephaly, Optic atrophy, Aplasi... |
ORPHA:1466 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorr... |
ORPHA:97339 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... |
OMIM:166300 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Epistaxis, Diffuse alveolar hemorrhage, Weight loss, Hematuria, Oral cavity bl... |
ORPHA:520 |
Meckel Syndrome 13 |
|
Flexion contracture, Retinopathy, Polycystic kidney dysplasia |
OMIM:617562 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Flexion contracture, Optic atrophy |
OMIM:618237 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Joubert Syndrome 20 |
|
Retinopathy, Renal cyst |
OMIM:614970 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microcephaly, Colpocephaly, Microphthalmia, Agenesis of corpus callosum |
OMIM:609053 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... |
OMIM:154276 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... |
OMIM:158900 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Scapular wingi... |
ORPHA:101085 |
Chanarin-Dorfman Syndrome |
|
Subcapsular cataract |
OMIM:275630 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... |
ORPHA:761 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst, Right aortic arch, Transposition of the great arteries, Double outlet ri... |
OMIM:231060 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Eczema, Cerebellar hemorrhage, Hyperglycinuria, Hypera... |
OMIM:606054 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Sutural cataract |
OMIM:201470 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple r... |
ORPHA:1166 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma |
ORPHA:1617 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Obesity, Periodontitis, Moderate albuminuria, Retinopathy, Hydronephrosis |
OMIM:619269 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Elevated circulating c... |
ORPHA:368 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Hypoplasi... |
OMIM:616816 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure,... |
ORPHA:1949 |
Nail-Patella Syndrome |
|
Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pectoralis minor... |
OMIM:161200 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Increased circulating farnesol concentration, Elbow flexion contracture, ... |
OMIM:618156 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy, Optic atrophy, Secondary microcephaly |
OMIM:618236 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Lower limb amyotrophy, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Decreased muscle mass, Proteinuria, Hyperlipidemia, Lipemia retinalis, Nephrol... |
OMIM:232200 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Optic atrophy, Retinopath... |
ORPHA:447788 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
Peroxisome Biogenesis Disorder 2B |
|
Polar cataract |
OMIM:202370 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Retinal dystrophy, Exercise-induced myoglobinuria, Rhabdomyolysis, Myopathy |
OMIM:300653 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Sterile pyur... |
ORPHA:91500 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Failure to thrive, Muscular dystrophy, Renal salt wasting |
OMIM:300200 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, Co... |
ORPHA:99901 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of t... |
OMIM:620155 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... |
ORPHA:2596 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Hypertension, Mitral regurgitation, Polycystic kidney dysplas... |
OMIM:173900 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobin... |
OMIM:268200 |
Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepin... |
OMIM:171300 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventriculomegaly, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Mic... |
OMIM:301056 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... |
OMIM:603034 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Cerulean cataract |
OMIM:616732 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... |
ORPHA:139471 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... |
ORPHA:464321 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu... |
OMIM:616827 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Distal lower limb muscle weakness, Low... |
OMIM:615033 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Open ang... |
ORPHA:137599 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropathy, Coronary artery... |
OMIM:209010 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... |
OMIM:608836 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, Glaucoma |
OMIM:618005 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Optic atrophy, We... |
ORPHA:397 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:620312 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy... |
ORPHA:31826 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Obesity, Nephronophthisis, Retinal degeneration |
OMIM:615630 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Discoid lupus rash, Cheilitis, Hematuri... |
ORPHA:536 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Atrial Standstill |
|
Skeletal muscle atrophy, Ventricular escape rhythm, Cardiac conduction abnormality, Atrial stands... |
ORPHA:1344 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Hypertrophic cardiomyopathy, Tubular luminal dilatation, Renal i... |
OMIM:619902 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
Warburg Micro Syndrome 1 |
|
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Optic atrophy, Cerebral atr... |
OMIM:600118 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Glaucoma, Micr... |
ORPHA:2714 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy |
ORPHA:352470 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Retinal detachment, Retinal dystrophy, Chorioretina... |
ORPHA:899 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:401777 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... |
ORPHA:2035 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr... |
OMIM:616468 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:610655 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Microcephaly, Fatty replacement of skeletal muscle, Achi... |
ORPHA:370980 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Micropenis, Chilblains, Portal hypertension, Chorioretinal atrophy, Thickened gl... |
OMIM:619487 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Hypertrophi... |
OMIM:612954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Elevated circulating creatine kinase concentration, Sp... |
OMIM:301830 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Glauco... |
ORPHA:3163 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Unilateral renal agenesis, Intraventricular hemorrhage, Methylmalon... |
ORPHA:79284 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Optic disc pallor, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Retinal degeneration |
OMIM:618479 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney, Hyperlipidemia, Hypertrophic cardiomyopathy, Failure to t... |
ORPHA:369 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Optic disc pallor, Optic nerve hypoplasia, Abnormally large globe, Hypo... |
OMIM:300749 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Ventriculomegaly, Optic ... |
OMIM:615574 |
Malakoplakia |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchiti... |
ORPHA:556 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Recurrent skin infections, Urinary bladder inflammation, Hem... |
ORPHA:79403 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Myopathy, Hypok... |
ORPHA:213 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmen... |
OMIM:175780 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Hypokalemia, Second degree atr... |
ORPHA:369929 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight loss, Hematuri... |
ORPHA:160 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia... |
OMIM:208085 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Polycystic kidney dysplasia, Increased circulating very long-chain fatty aci... |
OMIM:614859 |
Erythrokeratodermia Variabilis |
|
Glaucoma, Cataract, Corneal opacity |
ORPHA:317 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Foot joint contracture, Optic atrophy, Uveitis, Hypertension, P... |
ORPHA:90321 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Central Core Disease |
|
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... |
ORPHA:597 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Limb-girdle muscle weakness, Optic atrophy, Myopathy, Abnorm... |
ORPHA:1215 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... |
OMIM:608840 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... |
OMIM:613818 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Renal insufficiency, Hypertrigl... |
OMIM:203800 |
Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
OMIM:601794 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Gingival b... |
ORPHA:99828 |
Myotonic Dystrophy 2 |
|
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... |
OMIM:602668 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy |
OMIM:601287 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Cardiom... |
OMIM:615352 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Aplasia/Hypoplasia of the abdominal wall musculature, Proteinuria, Failure to... |
ORPHA:834 |
Nail-Patella Syndrome |
|
Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Coronary arte... |
ORPHA:2614 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Erythrocytosis, Familial, 2 |
|
Plethora, Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentrati... |
OMIM:613205 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Optic atrophy, Increased variability in muscle fiber diameter, Abnormal auditory evoked... |
OMIM:125250 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Weak... |
OMIM:223360 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... |
OMIM:615184 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Failure to thrive, Lymphang... |
OMIM:602579 |
Primary Familial Polycythemia |
|
Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Muscle-Eye-Brain Disease |
|
Elevated circulating creatine kinase concentration, Hydrocephalus, Optic atrophy, Myopathy, Aplas... |
ORPHA:588 |
Eales Disease |
|
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Optic... |
ORPHA:40923 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus... |
ORPHA:300570 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Rhyns Syndrome |
|
Rod-cone dystrophy, Renal insufficiency, Chronic kidney disease, Nephronophthisis |
OMIM:602152 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Pierson Syndrome |
|
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620138 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma |
ORPHA:363741 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Flexion contracture, Abnormal medullary pyra... |
ORPHA:79243 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Sickle Cell Disease |
|
Renal insufficiency, Hematuria, Hypertension, Stroke, Retinopathy |
OMIM:603903 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Seizure, Status epilepticus, Myoclonus |
ORPHA:71277 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Nephrocalcinosis, Glycos... |
OMIM:616026 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Myopathy |
OMIM:618234 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Rod-cone dystro... |
OMIM:618161 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Obesity, Renal cyst, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
Axial Osteomalacia |
|
Myopathy, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Joubert Syndrome 14 |
|
Morning glory anomaly, Optic atrophy, Renal cyst, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Calf muscle pseudohypertrophy, Scapular winging, Muscular dystrophy, Achilles tendon contracture |
ORPHA:62 |
Ruvalcaba Syndrome |
|
Hematuria, Abnormal localization of kidney |
ORPHA:3121 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema... |
ORPHA:1018 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Patent ductus arte... |
OMIM:608799 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomyopathy, Myopat... |
OMIM:614922 |
1P31P32 Microdeletion Syndrome |
|
Cutis marmorata, Intraventricular hemorrhage, Seizure, Abnormality of the urinary system, Moyamoy... |
ORPHA:401986 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Buphthalmos, Developmental glaucoma, Portal hypertension |
OMIM:610199 |
Coach Syndrome 1 |
|
Optic disc pallor, Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal... |
OMIM:216360 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop... |
ORPHA:324 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Left ven... |
ORPHA:251274 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Hyperglycinuria |
OMIM:243500 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia, Primary microcephaly |
OMIM:618828 |
Septo-Optic Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the cerebellum, Septo-optic dysplasia, Agenesis of corpus callosum, Optic n... |
ORPHA:3157 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy |
OMIM:605809 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Right bundle branch block, Muscular dystrophy |
OMIM:613158 |
Frank-Ter Haar Syndrome |
|
Developmental glaucoma, Megalocornea, Buphthalmos, Abnormally large globe |
OMIM:249420 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:616094 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Seizure, Aminoaciduria, Prol... |
OMIM:619055 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia, Ventriculomegaly |
OMIM:615879 |
Urachal Cyst |
|
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Peritoni... |
ORPHA:488 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Facial hypoton... |
OMIM:617595 |
Orotic Aciduria |
|
Hematuria, Failure to thrive, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Muscle fi... |
OMIM:253700 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpus callos... |
OMIM:300887 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Cerebellar... |
OMIM:606519 |
Spinocerebellar Ataxia With Epilepsy |
|
Hyperalaninemia, Optic atrophy, Myopathy, Sensory axonal neuropathy |
ORPHA:254881 |
Ophthalmomandibulomelic Dysplasia |
|
Glaucoma, Megalocornea, Corneal opacity |
ORPHA:2741 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca |
ORPHA:495875 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Seizure, Hypertension, Sync... |
ORPHA:90065 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis |
OMIM:263000 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Glaucoma, Cataract |
OMIM:300261 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
Joubert Syndrome 6 |
|
Retinal degeneration, Stage 5 chronic kidney disease, Nephronophthisis, Chorioretinal coloboma |
OMIM:610688 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Hepatosplenome... |
ORPHA:464329 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Ventriculomegaly, Astrocytosis |
OMIM:611087 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Retinal dystrophy, Rhabdomyolysis, Myopathy, Myoglobinuria |
ORPHA:713 |
Spondyloenchondrodysplasia |
|
Proteinuria, Pneumonia, Skin rash, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hepati... |
ORPHA:1855 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Ventriculomegaly, Multiple joint contractures, Optic nerve hypoplasia, Ankle f... |
ORPHA:468631 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea... |
ORPHA:2038 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Skeletal muscle steatosis, Renal tubular dysfuncti... |
ORPHA:436271 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria |
ORPHA:86818 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Cutaneous leiomyosarcoma, Renal cyst |
OMIM:135150 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypoma... |
OMIM:618183 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P... |
ORPHA:447 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the... |
OMIM:612513 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis |
ORPHA:2969 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Poor wound healing, Joi... |
ORPHA:465 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ... |
ORPHA:330001 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Nephrotic sy... |
ORPHA:110 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Microcephaly, Hydrocephalus, Microphthalmia, Ventriculomegaly |
ORPHA:858 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti... |
OMIM:145001 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Anterior polar cataract |
OMIM:250420 |
Aspergillosis |
|
Sinusitis, Abnormality of the kidney, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, ... |
ORPHA:1163 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Exercise-induced rhabdomyolysis, Predominantly dermal neutrophilic infiltrate, Superficial dermal... |
ORPHA:284426 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm... |
ORPHA:552 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Arthrogryposis multi... |
OMIM:236500 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... |
OMIM:208500 |
Sialidosis Type 2 |
|
Corneal opacity, Abnormal macular morphology |
ORPHA:87876 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi... |
ORPHA:231625 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Lipemia retinalis, Nephrolithiasis, Gout, Focal segmental glomerulos... |
OMIM:232220 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, M... |
ORPHA:85167 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Hyperhomocystinemia, Retinal degeneration, Glomerulopathy,... |
ORPHA:79282 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Mend Syndrome |
|
Aortic valve stenosis, Anterior polar cataract, Macular hypoplasia, Cataract |
OMIM:300960 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Skeletal muscle hypertrophy, Macroglossia, Myopathy |
ORPHA:2349 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Glaucoma, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Joubert Syndrome 18 |
|
Camptodactyly, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... |
OMIM:617729 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Retinitis, Hematemesis, Retinal hemorrhage, Uveitis, Hepatitis, Hem... |
ORPHA:319251 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Transient ischemic attack, Small for gestational age, Stage 5 c... |
OMIM:242900 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Optic nerve hypoplasia |
ORPHA:572013 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ... |
OMIM:263200 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Flexion contracture, Optic nerve hypoplasia, Mic... |
OMIM:222765 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death,... |
OMIM:619751 |
Aniridia 3 |
|
Aniridia, Glaucoma, Cataract |
OMIM:617142 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
Xp22.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma |
ORPHA:1643 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... |
OMIM:191800 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:261250 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Right ventricular failure, Reduced forced vital capacity, Nonpr... |
ORPHA:2302 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Anterior polar cataract |
OMIM:619575 |
Tarp Syndrome |
|
Subdural hemorrhage, Tetralogy of Fallot, Horseshoe kidney, Optic atrophy, Neonatal death, Failur... |
OMIM:311900 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Seizure, Syncope, Palpitations, ... |
ORPHA:464453 |
Dravet Syndrome |
|
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... |
ORPHA:33069 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Abnormal pupil morphology, Bu... |
ORPHA:534 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Verheij Syndrome |
|
Optic nerve hypoplasia, Cerebral atrophy, Microcephaly |
OMIM:615583 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive p... |
ORPHA:319213 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hype... |
OMIM:615980 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marr... |
OMIM:256550 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Hypertriglyceridemia, Increased muscle lipid content, Elevated circulating creatine kin... |
OMIM:610717 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon |
OMIM:619194 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Tricuspid regurgitation, Congestive heart failure, Chronic pulmon... |
ORPHA:2414 |
Gaucher Disease Type 1 |
|
Proteinuria, Osteoarthritis, Hematuria, Gingival bleeding, Pulmonary arterial hypertension, Bruis... |
ORPHA:77259 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity |
ORPHA:93476 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Intracranial hemorrhage, Seizure, Pseudopapillede... |
ORPHA:140989 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Sporadic Creutzfeldt-Jakob Disease |
|
Gliosis, Cerebral atrophy, Astrocytosis |
ORPHA:204 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati... |
ORPHA:95455 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atr... |
ORPHA:538 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Joint contracture, Cereb... |
OMIM:617864 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... |
OMIM:220110 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Abeta Amyloidosis, Dutch Type |
|
Seizure, Stroke, Death in early adulthood, Cerebral hemorrhage |
ORPHA:100006 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Temporal cortical atrophy, Retinal dysplasia, Hypoplasia of the co... |
OMIM:615665 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration, Skelet... |
ORPHA:98895 |
Cardiofaciocutaneous Syndrome 4 |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
OMIM:615280 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria |
ORPHA:1334 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Cat-Eye Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:195 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... |
ORPHA:1345 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Heart murmur |
ORPHA:1867 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Abnormal retinal vascular morphology, Seizure, Ethylmalonic aciduria, Acrocyano... |
OMIM:602473 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ecchymosis, ... |
ORPHA:99827 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
Adams-Oliver Syndrome 2 |
|
Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Lateral ventricle dilatation, Cereb... |
OMIM:614219 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... |
OMIM:620278 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Ruijs-Aalfs Syndrome |
|
Posterior subcapsular cataract, Cataract |
OMIM:616200 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Acne, Renal salt wasting, Long penis, Polycystic ovaries, Intracranial hemorrhage, Hypertension, ... |
ORPHA:90795 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Angle closure glaucoma, Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Hellp Syndrome |
|
Proteinuria, Poor wound healing, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time,... |
ORPHA:244242 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Elevated circulating creati... |
ORPHA:542323 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Cataract |
ORPHA:79238 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Acute pancreatitis, Elevated circulating creatine kina... |
ORPHA:26791 |
Gaucher Disease Type 2 |
|
Respiratory distress, Cardiac arrest, Cough, Generalized myoclonic seizure, Abnormal pattern of r... |
ORPHA:77260 |
Leber Optic Atrophy |
|
Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Myopathy, Leber opti... |
OMIM:535000 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Cerebral cortical atrophy, Nonketotic hyperglycinemia, Microcephaly |
OMIM:220120 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Astrocytosis |
OMIM:600795 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Tetralogy of Fallot, Prolonged p... |
OMIM:619525 |
Aniridia And Absent Patella |
|
Aniridia, Glaucoma, Cataract |
OMIM:106220 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Microcephaly, Optic atrophy, Myopathy, Abnormal circulating creatine kin... |
ORPHA:559 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia |
OMIM:615877 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Glaucoma, Aniri... |
OMIM:180500 |
Craniolenticulosutural Dysplasia |
|
Punctate cataract, Posterior Y-sutural cataract |
OMIM:607812 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Abnormal vascular morphology, My... |
ORPHA:781 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Amme Complex |
|
Hematuria, Diastasis recti |
OMIM:300194 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... |
ORPHA:93400 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Conjugated hyperbilirubinemia, Renal cyst, Prolonged prothrombi... |
ORPHA:79303 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Congenital Myopathy 16 |
|
EMG: myopathic abnormalities, Scapular winging, Flexion contracture |
OMIM:618524 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypothalamic hamartoma, ... |
OMIM:206900 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, P... |
ORPHA:188 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract |
ORPHA:50814 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Right ventricular failure, Abnormal circulating calcium concentration, I... |
ORPHA:60025 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity |
ORPHA:309288 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... |
OMIM:145600 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:157973 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Patent ductus arteriosus, Hyperkal... |
OMIM:617053 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Astrocytosis, Abnormal autonomic nervous system physiology, Ves... |
ORPHA:282166 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Proteinuria, Congenital diaphragmatic hernia |
ORPHA:2143 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:253800 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, ... |
ORPHA:85447 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Cataract, Coloboma, Microcytic anemia |
OMIM:612379 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Musc... |
OMIM:615350 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Retin... |
OMIM:610188 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Facial hypotonia, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypopla... |
ORPHA:457284 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Hypertensive retinopathy, Left ventricular hypertrophy, Abnormal urine sodiu... |
ORPHA:320 |
Retinitis Pigmentosa 74 |
|
Posterior polar cataract |
OMIM:616562 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy |
OMIM:613869 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle muscle weakness |
OMIM:615156 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage |
OMIM:603585 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Abnormal coronary artery course, Seborrheic dermatitis, Paten... |
ORPHA:488618 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Vasculitis, Nephrotic syndrome, Malar rash, Nephritis, Petechiae |
OMIM:603909 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Ventricu... |
ORPHA:159 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Flexion contracture, Retinal degeneration, Retinal atrophy, Renal hypopl... |
ORPHA:90324 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, C... |
OMIM:307030 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Astrocytosis |
ORPHA:275864 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Seizure, Respiratory failure, Restrictive ventil... |
OMIM:614399 |
Hemochromatosis, Type 4 |
|
Cataract, Cardiomyopathy, Impotence, Arrhythmia, Anemia |
OMIM:606069 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... |
ORPHA:411709 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... |
OMIM:232300 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Patent ductu... |
ORPHA:391641 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Facial palsy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Cereb... |
ORPHA:261349 |
Joubert Syndrome 2 |
|
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... |
OMIM:608091 |
Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
Kid Syndrome |
|
Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularizatio... |
ORPHA:477 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Optic nerve dys... |
OMIM:615287 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Optic atrophy, Seizure, Death in childhood, Micropenis |
OMIM:615597 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Telan... |
ORPHA:459033 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Chorioretinal lacunae, Retinal pigment epithe... |
OMIM:618733 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Seizure, Aminoaciduria, Proximal tubulopathy, Status epilepticus |
OMIM:612075 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respirator... |
ORPHA:70587 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Ventriculomegaly, Retinal ... |
OMIM:619074 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... |
ORPHA:264675 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Microcephaly, Retinal pigment epithelial mottling, Lateral ventricle dila... |
OMIM:614105 |
19P13.13 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Corpus callosum atrophy, Optic atrophy, Macroglossia, Hypoplasia of the f... |
ORPHA:357001 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, ... |
OMIM:615351 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Rod-cone dystrophy, Flexion contracture, Renal cyst, Stroke-like episo... |
OMIM:212065 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:627 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, Myoclonic seizure,... |
ORPHA:254913 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Renal insufficiency, Optic atrophy, Seizure, Cardiomyopathy, Stroke |
ORPHA:79312 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Renal hypoplasia/aplasia, Intracranial hemorrhage, Chorioret... |
ORPHA:2481 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia |
OMIM:615085 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Decreased fertility, Primary amenorrhea |
ORPHA:2410 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Clonic seizure, Optic atrophy, Seizure, Status epilepticus, Generali... |
ORPHA:79097 |
Schwannomatosis, Vestibular |
|
Retinal hamartoma, Juvenile posterior subcapsular lenticular opacities, Epiretinal membrane, Cort... |
OMIM:101000 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal cardiovascular system physiology, Abnormal respiratory sy... |
ORPHA:50251 |
White-Sutton Syndrome |
|
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Microcephaly, Cerebral... |
OMIM:616364 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Optic atrophy, Microphthalmia, Agenesis of corpus callosum |
ORPHA:3301 |
Malaria |
|
Respiratory distress, Acute kidney injury, Retinopathy |
ORPHA:673 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Ureteral stenosis, Apnea, Cyanosis, Asthma, Tachypnea, Pneumothora... |
ORPHA:2257 |
Sengers Syndrome |
|
Cataract, Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Developmental ca... |
OMIM:212350 |
Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia |
OMIM:616176 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... |
ORPHA:84081 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Seizure, Organic aciduria |
OMIM:614741 |
Fg Syndrome Type 1 |
|
Progressive flexion contractures, Optic nerve hypoplasia, Hydrocephalus, Aplasia/Hypoplasia of th... |
ORPHA:93932 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Retinal vascular malformation, Cerebellar hy... |
ORPHA:42775 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... |
ORPHA:107 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Abnormal r... |
ORPHA:2715 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Fetal Gaucher Disease |
|
Death in infancy, Intracranial hemorrhage, Seizure, Stillbirth, Neonatal death |
ORPHA:85212 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Posterior polar cataract, Iron deficiency anemia, Intestinal bleeding, Optic disc hypoplasia |
ORPHA:261584 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... |
ORPHA:254361 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Extremely elevated creatine kinase, Peripheral axonal neuropathy, Decreased nerve conduction velo... |
ORPHA:99939 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Seizure, Focal tonic seizure |
OMIM:617977 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Melas |
|
Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Dilated cardiomyopat... |
ORPHA:550 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98855 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... |
ORPHA:906 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis, Glaucoma, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:3449 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Seizure, Hypospadias |
OMIM:300934 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Optic a... |
OMIM:251300 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Rhabdomyolysis |
OMIM:602199 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,... |
ORPHA:60041 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Posterior subcapsular cataract, Astigmatism |
OMIM:619234 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Hypoplasia of the corpus callosu... |
OMIM:603671 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur... |
OMIM:615398 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Sudden cardiac death, Pulmo... |
ORPHA:744 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Cyanosis, Abnormal coronary artery morpholo... |
ORPHA:860 |
Zttk Syndrome |
|
Aortic regurgitation, Polyuria, Unilateral renal agenesis, Patent ductus arteriosus, Flexion cont... |
OMIM:617140 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Develo... |
OMIM:620185 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Optic atrophy, Hypertension, Hypoalbuminemia, Failure... |
OMIM:610965 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst, Camptodactyly |
OMIM:614175 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ph... |
OMIM:267750 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Partial anomalous pulmonary venous return, Elevated circulating creatinine c... |
OMIM:617478 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Cystic Echinococcosis |
|
Renal cyst, Weight loss, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Abnormality of... |
ORPHA:400 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Ethylmalonic Encephalopathy |
|
Seizure, Ethylmalonic aciduria, Retinal vascular tortuosity, Acrocyanosis, Petechiae |
ORPHA:51188 |
Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract |
OMIM:117300 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Microcephaly, Abnormal optic disc morphology, Retinal colob... |
ORPHA:508498 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Mild proteinuria, Hyper... |
OMIM:619147 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Tempi Syndrome |
|
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia |
ORPHA:284227 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1553 |
Insulin-Resistance Syndrome Type B |
|
Decreased body weight, Proteinuria, Abnormality of body weight, Pneumonia, Skin rash, Abnormal ci... |
ORPHA:2298 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... |
ORPHA:2399 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Cardiomyopathy, Subcapsular cataract |
ORPHA:98907 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Optic atrophy, Seizure |
OMIM:615042 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Retinal degeneration, Rod-cone dystrophy, Optic atrophy, Seizure, Hypertrophic cardiomy... |
ORPHA:391428 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Dilated cardiomyopathy, Optic atrophy, Respira... |
OMIM:614299 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Rhabd... |
OMIM:251900 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Seizure, Arteriovenous malform... |
ORPHA:624 |
Scheie Syndrome |
|
Aortic regurgitation, Glaucoma, Corneal opacity |
ORPHA:93474 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Seizure, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Pri... |
OMIM:115250 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Splenomegaly, Nuclear cataract, Stomatocytosis |
OMIM:608885 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Corneal opacity |
ORPHA:585 |
Congenital Disorder Of Glycosylation, Type Il |
|
Failure to thrive, Polycystic kidney dysplasia |
OMIM:608776 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal... |
ORPHA:99826 |
Sialidosis Type 1 |
|
Retinopathy, Cherry red spot of the macula, Cataract, Corneal opacity |
ORPHA:812 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... |
ORPHA:45452 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Scapular winging, Morning glory anomaly, Corpus callosum atrophy, Optic ... |
ORPHA:98673 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Cataract, Hepatosplenomegaly, Stomatocytosis, Zonular cataract |
ORPHA:168577 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Heart murmur, Renal cyst, Horseshoe kidney, Abnormal vena cava morphology, Rod-cone dystrophy, Re... |
ORPHA:166035 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Glaucoma, Cataract |
ORPHA:1069 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Polycystic kidne... |
OMIM:214110 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Nephrocalcinosis, Inflammation of the large intestine, Pe... |
ORPHA:79259 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma |
ORPHA:2031 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria |
ORPHA:300536 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Microcephaly, Flexion contracture, Elbow flexion contracture, Knee flex... |
OMIM:214150 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Apnea, Cyanosis, Renal steatosis, Optic atrophy, Seizure |
OMIM:261680 |
Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:61 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentratio... |
ORPHA:263455 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Uveitis, Glaucoma, Anterior chamber synechiae |
ORPHA:85410 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Cyanosis, Abnormal umbilical stump ble... |
ORPHA:335 |
Glycogen Storage Disease Iii |
|
Myopathy, Hyperlipidemia, Distal amyotrophy, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan s... |
ORPHA:505248 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst,... |
ORPHA:1834 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Rhabdomyosarcoma, Coarctation of aorta, Abnor... |
ORPHA:1052 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myop... |
OMIM:255125 |
Dpm1-Cdg |
|
Elevated circulating creatine kinase concentration, Optic atrophy, Knee flexion contracture, Musc... |
ORPHA:79322 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... |
ORPHA:892 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten... |
ORPHA:33001 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acrocyanosis, Intern... |
ORPHA:49566 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Optic atrophy, Renal cortical cysts, Erythroderma, Failure to thrive |
OMIM:609180 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Coloboma |
ORPHA:141333 |
Hereditary Methemoglobinemia |
|
Seizure, Cyanosis, Exertional dyspnea |
ORPHA:621 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98853 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Cyanosis, Left-to-right shunt, Pneumonia, Abnormally loud pulmonic component... |
ORPHA:99104 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne... |
ORPHA:2552 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Dicarboxylic aciduria, I... |
ORPHA:71212 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia |
OMIM:617306 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Small thenar eminence, Chordee, Ves... |
OMIM:140000 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Intraventricular hemorrhage, Erythema,... |
ORPHA:420741 |
Cerebrooculonasal Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hydrocephal... |
OMIM:605627 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O... |
ORPHA:220393 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy, Renal cyst |
OMIM:601539 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Hypertension |
ORPHA:52 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Skeletal muscle atrophy |
OMIM:612300 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610756 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature |
ORPHA:254875 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circu... |
OMIM:201475 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Orthostatic hypotension, Optic atrophy |
OMIM:231550 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus cal... |
OMIM:301043 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Cataract, Splenomegaly, Hypoplasia of the thymu... |
ORPHA:567 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, Acute rhabdomyolysis, H... |
ORPHA:423 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Patent ductus arteriosus, Opti... |
OMIM:220500 |
Galactokinase Deficiency |
|
Nuclear cataract, Cataract, Hepatosplenomegaly |
ORPHA:79237 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephrit... |
OMIM:619351 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Cataract, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis... |
OMIM:610377 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Gl... |
ORPHA:912 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Hypoplasia of the corpus callosum, Microphthalmia, Agenesis of corpus callosum, Dan... |
OMIM:164180 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes... |
OMIM:609560 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Developmental cataract |
OMIM:619420 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cryptorchidism, Glaucoma, Cataract |
ORPHA:893 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Premature graying of hair, Hematochezia, Chorioretinal scar, Vascular di... |
OMIM:277175 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Leukopenia, Neutropenia, Zonular cataract, Thrombocytopenia |
OMIM:616271 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Pulmonary art... |
OMIM:606721 |
Tricuspid Atresia |
|
Cyanosis, Coarctation of aorta, Transposition of the great arteries, Pulmonary artery atresia, Pe... |
ORPHA:1209 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Juvenile Sialidosis Type 2 |
|
Optic atrophy, Cherry red spot of the macula, Cataract, Corneal opacity |
ORPHA:93399 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis... |
ORPHA:342 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr... |
ORPHA:47159 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity |
ORPHA:1794 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Optic atrophy, Seizure, Micropenis |
ORPHA:370924 |
Gaucher Disease |
|
Abnormal bleeding, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein concentrat... |
ORPHA:355 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Recurrent otitis media, Heart murmur, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyper... |
ORPHA:163979 |
Slc35A1-Cdg |
|
Abnormal bleeding, Respiratory distress, Prolonged bleeding time, Pneumonia, Hypoxemia, Subcutane... |
ORPHA:238459 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Cerebral atrophy, Myopathy, Gliosis, Increased variability in muscle fi... |
OMIM:604377 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Flexion contracture, Opti... |
OMIM:619321 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Chronic otitis media, Pulmonary artery ste... |
ORPHA:261494 |
Nipah Virus Disease |
|
Respiratory distress, Seizure, Myoclonus, Hypotension, Cough |
ORPHA:99825 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Temtamy Syndrome |
|
Microphthalmia, Ventriculomegaly, Agenesis of corpus callosum, Chorioretinal coloboma |
OMIM:218340 |
Nelson Syndrome |
|
Increased urinary cortisol level, Quadriceps muscle atrophy, Intracranial hemorrhage, Hypertensio... |
ORPHA:199244 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, Hypoplastic aorti... |
ORPHA:314588 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Astrocytosis, Highly el... |
ORPHA:258 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Splenomegaly, Corneal neovascularization, Corneal scarring |
ORPHA:404454 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Hydr... |
OMIM:610829 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... |
OMIM:619040 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Patent ductus arteriosus, Abnormality of the ureter, Optic ... |
ORPHA:3378 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasa... |
ORPHA:90051 |
Mpdu1-Cdg |
|
Eczema, Optic atrophy, Elevated circulating creatine kinase concentration, Renal cortical cysts |
ORPHA:79323 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Cardiac arrest, Acute rhabdomyolys... |
OMIM:616878 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
Menkes Disease |
|
Intracranial hemorrhage, Seizure, Epileptic spasm, Death in childhood |
OMIM:309400 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... |
ORPHA:178148 |
Wound Botulism |
|
Cardiac arrest, Mydriasis |
ORPHA:178475 |
Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re... |
OMIM:252600 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral ... |
ORPHA:261290 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Femoral-Facial Syndrome |
|
Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Myopathy, Hypocholesterolemia, EMG: myopathic abnormalities, Retinopathy |
ORPHA:71 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lower limb muscle weakness, Elevated circulating C-reactive protein concentration, Lym... |
ORPHA:449427 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He... |
ORPHA:73263 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Intracranial hemorrhage, Respiratory failure, Abnormal optic nerve morph... |
ORPHA:3226 |
Leukodystrophy, Hypomyelinating, 24 |
|
Cataract, B lymphocytopenia |
OMIM:619851 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertens... |
ORPHA:79126 |
Hydranencephaly |
|
Optic nerve hypoplasia, Chorioretinal atrophy, Primary microcephaly, Cerebral cortical atrophy, V... |
ORPHA:2177 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy |
OMIM:618829 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy |
OMIM:231530 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Gaucher Disease Type 3 |
|
Hematuria, Pulmonary arterial hypertension, Proteinuria |
ORPHA:77261 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Camptodactyly of finger |
ORPHA:2065 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Knee flexion contracture, Pigmentary retinopathy, Distal amyotrophy, Ske... |
ORPHA:3208 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co... |
OMIM:161800 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Congenital muscular d... |
OMIM:254090 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Polycystic kidney dysplasia |
OMIM:263210 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Abnormal capillary physiology, Upper airway obstructi... |
ORPHA:100057 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Acute Lung Injury |
|
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi... |
ORPHA:178320 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera... |
ORPHA:77299 |
Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Leukocoria |
OMIM:268130 |
Spondyloocular Syndrome |
|
Retinal detachment, Posterior subcapsular cataract, Cataract |
OMIM:605822 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Cyanosis, Intercostal retractions, Left-to-right shunt, Crackles, Righ... |
ORPHA:1329 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hy... |
ORPHA:36238 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Focal-onset seizure |
ORPHA:398189 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Obesity, Cystic renal dysplasia, Rod-cone dystrophy, Hydronephrosis |
OMIM:615989 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma |
OMIM:256540 |
Cranioectodermal Dysplasia 3 |
|
Peripheral pulmonary artery stenosis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Nephrolithiasis, Rena... |
ORPHA:143 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Glaucoma, Developmental glaucoma, Cataract |
OMIM:614438 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Duane Retraction Syndrome |
|
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... |
ORPHA:233 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Increased variability in muscle fiber diameter, Increased muscle glycogen cont... |
ORPHA:502423 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Aplasia/Hypoplasia affecting the eye, Anemia, Iris hy... |
ORPHA:2719 |
Pure Mitochondrial Myopathy |
|
Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhabdomyolysis, Proximal a... |
ORPHA:254854 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Proteinuria, Retinal dystrophy, Congenital diaphragmatic hernia, Non-acidotic... |
OMIM:222448 |
Wagro Syndrome |
|
Aniridia, Hypertension, Cataract, Corneal opacity |
OMIM:612469 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias |
ORPHA:2115 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Flexion contracture, Optic nerve hypoplasia, Camptodactyly |
OMIM:620029 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal deg... |
OMIM:250410 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b... |
ORPHA:31824 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent otitis media, Eczema |
OMIM:619774 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Pancreatic And Cerebellar Agenesis |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Flexion contracture, Cerebel... |
OMIM:609069 |
Typical Nemaline Myopathy |
|
Facial palsy, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Fl... |
ORPHA:171436 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Acute pancreatitis, Abnormal ca... |
ORPHA:79086 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency |
OMIM:615368 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... |
ORPHA:70588 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Tricuspid regurgitation, Coloboma, Peters anomaly |
OMIM:618652 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... |
OMIM:267010 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Camptodactyly |
OMIM:619980 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ... |
OMIM:277900 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Ventriculomegaly, Agenesis of corpus callosum, Secondary microcephaly |
OMIM:614583 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Neurofib... |
OMIM:607625 |
Hypoadrenocorticism, Familial |
|
Seizure, Cyanosis, Apnea |
OMIM:240200 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism |
ORPHA:1381 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens, Facial hypotonia |
ORPHA:85194 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
OMIM:602342 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Stroke-like episode, Seizure, Status epilepticus, Bradycardia,... |
OMIM:619272 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Hypertrophic cardiomyopathy, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... |
OMIM:615415 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Macroglossia, Retinal dysp... |
OMIM:213300 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Wei... |
ORPHA:139402 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Chorioretinitis, Optic neuritis, Cerebral hemorrhage |
OMIM:301081 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Ragged... |
OMIM:258450 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Meningioma |
|
Papilledema, Hemifacial spasm, Hypogonadotropic hypogonadism, Urinary incontinence, Cerebral hemo... |
ORPHA:2495 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Developmental cataract, Neutropenia, Microphthalmia, Lymphopenia |
OMIM:616395 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Dysplastic corpus callosum, Retinal coloboma |
ORPHA:2328 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Microcephaly, Ragged-red muscle fibers, Myopa... |
ORPHA:352447 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Lassa Fever |
|
Abnormal bleeding, Conjunctivitis, Oliguria, Shock |
ORPHA:99824 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Renal agenesis, Hypogonadotropic hypogonadism, Anomalous origin o... |
ORPHA:2326 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent otitis media, Hypertension, Renal hypoplasia, Absence of renal corticomedullary differe... |
OMIM:619758 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Joubert Syndrome 39 |
|
Overweight, Retinal dystrophy, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Prominent superficial veins, Persistent fetal ... |
ORPHA:363705 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy |
OMIM:616549 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive, Hypertrophic cardiomyopathy |
OMIM:614582 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Infantile spasms, Pulmonary arteriovenous malformation, Focal-onset s... |
ORPHA:268943 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia, Ventriculomegaly |
ORPHA:221139 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:136760 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Hypospadias, Small for gestational age, Conjugated... |
OMIM:614866 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Hypoxemia,... |
ORPHA:199241 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Congenital Fibrosis Of Extraocular Muscles |
|
Congenital fibrosis of extraocular muscles, Torticollis, Levator palpebrae superioris atrophy, Op... |
ORPHA:45358 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c... |
ORPHA:2869 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Posterior subcapsular cataract, Optic disc coloboma, Gla... |
ORPHA:536471 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Failure to thrive, Hypertriglyceridemia, Multiple small medullary r... |
OMIM:118450 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract |
OMIM:616603 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Obesity, Retinal vascular tortuosity, Hypercholesterolemia, Micropenis,... |
OMIM:619471 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, Hydrocephalus, Ventr... |
ORPHA:59315 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
Familial Cerebral Cavernous Malformation |
|
Retinal cavernous angioma, Cerebral hemorrhage, Seizure, Choroidal hemangioma, Vascular skin abno... |
ORPHA:221061 |
Trichinellosis |
|
Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Abnormal uvea m... |
ORPHA:863 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity |
OMIM:607015 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy |
ORPHA:369840 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Urinary incontinence, Congestive heart failure, Irregular me... |
OMIM:616482 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, ... |
OMIM:301068 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Failure to thrive, Retinal dystrophy, Cholangitis, Pancreatic cysts, Rod-co... |
OMIM:266920 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Aortic a... |
ORPHA:35125 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:602535 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Osteomyelitis, Venous insufficiency, Aplasia/Hypoplasia of the abdom... |
ORPHA:565 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea |
ORPHA:77298 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT interval, Nephrolithiasis, Rena... |
ORPHA:99880 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Facial palsy, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dy... |
OMIM:113650 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... |
ORPHA:79240 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Podagra, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Patent du... |
ORPHA:261344 |
Infant Botulism |
|
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis |
ORPHA:178478 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Stroke, Bacterial endocar... |
ORPHA:1054 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:248800 |
Alveolar Echinococcosis |
|
Cholangitis, Portal hypertension, Pancreatic cysts, Renal cyst, Weight loss, Abnormal skeletal mu... |
ORPHA:284 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Baraitser-Winter Syndrome 1 |
|
Microcephaly, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:243310 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Renal cortic... |
ORPHA:1692 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hypocal... |
ORPHA:2237 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Peritonitis, Elevated circulating creatinine concent... |
ORPHA:90038 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Conjunctivitis, Renal cyst |
OMIM:615560 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Telangiectasia ... |
ORPHA:464 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Retinal degeneration |
OMIM:272200 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Microcephaly, Type 1 muscle fiber atrophy, Macroglossia, Abnormal optic n... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Microcephaly, Type 1 muscle fiber atrophy, Macroglossia, Abnormal optic n... |
ORPHA:352665 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO, Fo... |
ORPHA:747 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Microcephaly, Flexion contracture, Optic atrophy, Secondary microcephaly, ... |
OMIM:614222 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Seizure, Respiratory failure, Interstitial pneumoniti... |
ORPHA:330021 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir... |
OMIM:107320 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Abnormal cardiac ventri... |
ORPHA:90349 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... |
ORPHA:264580 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Poor wound healing, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bladder diverticu... |
ORPHA:536545 |
Desbuquois Dysplasia 1 |
|
Developmental glaucoma |
OMIM:251450 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Abnormal circulating thyroglobulin level, Agenesis of corpus callosum, Optic nerve ... |
ORPHA:226307 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Wilson Disease |
|
Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia |
ORPHA:905 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Generalized-onset seizure, Hypospadias, Tracheomalacia, Testi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Generalized-onset seizure, Hypospadias, Tracheomalacia, Testi... |
ORPHA:363958 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Pulmonary e... |
ORPHA:394 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Agel Amyloidosis |
|
Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjunctivitis s... |
ORPHA:85448 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Frontotemporal cerebral atrophy, Temporal cortical atroph... |
ORPHA:100070 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Failure to thrive, Flexion contracture of finger, Hypos... |
ORPHA:464311 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Congestive heart failure, Myocarditis, Rhabdomyo... |
ORPHA:533 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... |
OMIM:256800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea... |
OMIM:261740 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ... |
ORPHA:805 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Peripheral axonal neuropathy, Centrally nucleated skel... |
OMIM:607459 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Eczema, Congenital diaphragmatic hernia, Obesity, Abnormal aortic m... |
ORPHA:1001 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture, Optic atro... |
OMIM:615663 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Torticollis, Osteomyelitis, Hypospadias, Overweight, Congestive heart failu... |
OMIM:619475 |
Foodborne Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:228371 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Myopathy |
ORPHA:166002 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Portal hypertension, Pancreatic cysts, Patent ductus arterios... |
OMIM:208540 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Myopathy, Myofibrillar, 1 |
|
EMG: myopathic abnormalities, Facial palsy |
OMIM:601419 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension, Arteriosclerosis, ... |
ORPHA:494424 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia |
ORPHA:2075 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microcephaly, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Microph... |
OMIM:610651 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H... |
OMIM:309801 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Glaucoma, Anterior chamber synechiae |
OMIM:601499 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Seizure, Epileptic spasm, Cyanotic episode, Myoclonus |
ORPHA:284417 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptor... |
OMIM:300219 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... |
OMIM:210250 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Seizure |
OMIM:237310 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Seizure, Stroke, Cerebral ischemia |
ORPHA:927 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive, Obesity, Congenital diaphragmatic hernia |
ORPHA:261197 |
Superficial Siderosis |
|
Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Functional abnormality of... |
ORPHA:247245 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Microcephaly, Astrocytosis, Hypomimic face, Hyperg... |
ORPHA:309854 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Proteinuria, Angular cheilitis, Weight loss, Failure to thrive |
ORPHA:35858 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Obesit... |
ORPHA:369837 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... |
ORPHA:887 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Glaucoma, Cardiomyopathy, Mitral regurgitation, Opacificat... |
OMIM:607014 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Cyanosis, Bilateral tonic-clonic seizure, Apnea, Tonic seizure, Clonic seizure, ... |
OMIM:619580 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri... |
ORPHA:191 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperammonemia, Myop... |
ORPHA:42 |
Refsum Disease |
|
Cataract, Heart block, Splenomegaly, Cardiomyopathy, Microphthalmia |
ORPHA:773 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Large for gestational age, Renal cyst, Varicose veins, Macroglossia, Retinal c... |
OMIM:617107 |
Carcinoid Syndrome |
|
Pulmonary carcinoid tumor, Myopathy, Small intestine carcinoid, Abnormal B-type natriuretic pepti... |
ORPHA:100093 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
OMIM:615524 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Myopathy, Caudate atrophy, Hypertriglyceridemia, Cerebral atrophy |
ORPHA:363400 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Arachnoid Cyst |
|
Facial palsy, Urinary incontinence, Subarachnoid hemorrhage, Urinary bladder sphincter dysfunctio... |
ORPHA:2356 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Ren... |
OMIM:191100 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Embryonal r... |
OMIM:257300 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... |
OMIM:618291 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infection... |
ORPHA:731 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Retinal hamart... |
OMIM:613254 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Optic disc coloboma, Chor... |
ORPHA:1454 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Fatty replacem... |
ORPHA:52430 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis |
OMIM:300519 |
Rere-Related Neurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the corpus callosum, Chorioretinal col... |
ORPHA:494344 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Aspiration pneumonia |
OMIM:616430 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Generalized-onset seizure, Focal-onset seizure, Generalized non-motor (abse... |
OMIM:620166 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Pneumonia, Abnormal re... |
OMIM:122470 |
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:85329 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:617506 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Seizure, Hydrocele testis |
OMIM:613603 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Optic atrophy, Respiratory distress |
ORPHA:289916 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,... |
OMIM:243700 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia... |
ORPHA:141099 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Partial agenesis of the corpus callosum, Optic atrophy, Microphthalmia, Cerebral co... |
OMIM:234050 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Acute colitis, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria... |
ORPHA:544482 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Bilateral tonic-... |
OMIM:618426 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness |
OMIM:229200 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... |
OMIM:115197 |
Saethre-Chotzen Syndrome |
|
Buphthalmos |
OMIM:101400 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Optic disc coloboma, Renal hypoplasia,... |
OMIM:618454 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,... |
ORPHA:980 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells |
OMIM:614878 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Failure to thrive, Renal hypoplasia/aplasia, Pa... |
ORPHA:2473 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:261476 |
Yellow Fever |
|
Abnormal bleeding, Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating c... |
ORPHA:99829 |
Tetanus |
|
Respiratory distress, Tachycardia, Elevated urinary norepinephrine level, Tachypnea, Elevated uri... |
ORPHA:3299 |
Inhalational Anthrax |
|
Respiratory distress, Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gas... |
ORPHA:247257 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Increased urinary glycerol, Intermittent hyperventilation, Epi... |
ORPHA:348 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexio... |
ORPHA:682 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Hepatitis, Hyperammonemia, Intr... |
ORPHA:90062 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricul... |
ORPHA:99050 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Tachypnea, Double outlet right ventricle, Heart murmur, Coarctation of aor... |
ORPHA:3426 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Aortopulmonary window, Absent pulse, Tricuspid regurgitation, Pa... |
ORPHA:2299 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Phimosis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weight lo... |
ORPHA:99921 |
Tangier Disease |
|
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
Gm1 Gangliosidosis |
|
Corneal opacity, Abnormal retinal vascular morphology, Congestive heart failure, Optic atrophy, R... |
ORPHA:354 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Congestive heart failure, Heart murmur, Seizure, Pulmonary arteri... |
ORPHA:3309 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Congestive heart failure, Optic atrophy, Glaucoma, Hypertrophic cardiomyopathy, ... |
ORPHA:579 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Ventriculomegaly, Global brain atrophy, Microcephaly |
OMIM:308350 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Seizure, Abnormal retinal morphology |
ORPHA:89844 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Hemoglobinuria, Myopathy, Cholecystitis, Hype... |
OMIM:611881 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis |
OMIM:613834 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Small thenar eminence, Lateral ventricle dilatation, Joint contracture of the 4th ... |
OMIM:618914 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dicarboxylic aciduria, Congestive heart failure, Cardiomyopathy, Mitral reg... |
OMIM:212140 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Double o... |
ORPHA:3304 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Hypovolemia, Abnormal renal physiology |
ORPHA:2290 |
1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hyposegmentation of neutrophil nuclei, Hypergonadotropic hypogonadism, Abnormalit... |
ORPHA:250999 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Macular atrophy, Elevated circulating creatine kinase concentration... |
OMIM:242840 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Failure to thrive, Multiple joint contractures, Hypospad... |
ORPHA:464306 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal aortic arch ... |
ORPHA:2059 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Cerebral hemorrhage, Cryptorchidism, Patent ductus arteriosus, Seizure |
OMIM:616682 |
Immunodeficiency 10 |
|
Myopathy |
OMIM:612783 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Epileptic spasm, Bilateral tonic-clonic seizure with gener... |
ORPHA:314655 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Small for gestational age, Cardiac conduction abnormality, Hypo... |
ORPHA:699 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Optic atrophy, Myopathy, Abnormal optic ner... |
ORPHA:506 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Multicystic kidney dysplasia, Telangiectasia of the skin, Patent ductus arter... |
ORPHA:1556 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia, Coloboma |
OMIM:167730 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Microcephaly, Optic atrophy, A... |
ORPHA:2510 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Abnormal retinal morphology, Camptodactyly of finger, Microcephaly, Bilateral microphthalmos, Elb... |
OMIM:610758 |
Biotinidase Deficiency |
|
Respiratory distress, Bilateral tonic-clonic seizure, Apnea, Infantile spasms, Optic neuropathy, ... |
ORPHA:79241 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Arthrogryposis multiplex... |
ORPHA:85201 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Camptodactyly, Aortic valve st... |
ORPHA:459061 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Seizure, Organic aciduria, Tachypnea |
ORPHA:79242 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Pe... |
OMIM:612582 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Limb myoclonus |
ORPHA:240103 |
Gracile Bone Dysplasia |
|
Aniridia, Microphthalmia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus |
ORPHA:163649 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Familial Isolated Hypoparathyroidism |
|
Myopathy |
ORPHA:2238 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Retinal dysplasia |
ORPHA:1190 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular volume, Macrocytic ... |
OMIM:612561 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Microcephaly, Hypoma... |
OMIM:619743 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Glaucoma, Cataract, Band keratopathy |
OMIM:604278 |
Farber Disease |
|
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... |
ORPHA:333 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Anemia, Developmental cataract |
OMIM:127000 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis |
OMIM:150260 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Chorioretinal dysp... |
ORPHA:2556 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Death in infancy, Optic disc pallor, Cyanosis, Hypospadias, Bilat... |
OMIM:252010 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Oculofaciocardiodental Syndrome |
|
Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Portal hypertension, Leukopenia, Pulmonary arterial hypert... |
ORPHA:974 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Glaucoma, Hypertensi... |
OMIM:186580 |
Warburg Micro Syndrome 2 |
|
Microcornea, Microphthalmia, Cataract, Developmental cataract |
OMIM:614225 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Patent ductus arterios... |
OMIM:146510 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Tachycardia, Hypospadias, Small for gestational age, Bilatera... |
OMIM:619488 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy |
OMIM:613077 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo... |
OMIM:181270 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... |
ORPHA:139417 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis... |
ORPHA:330015 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Infertility, Ciliary dyskinesia |
OMIM:606763 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Congestive heart failure, Myocarditis, Vasculitis, Hepatiti... |
ORPHA:2331 |
Usher Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of retinal pigmentation, Cerebral cortical atro... |
ORPHA:886 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Nuclear cataract |
ORPHA:2848 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Patent ductus arteriosus |
ORPHA:166272 |
D-Bifunctional Protein Deficiency |
|
Failure to thrive, Renal cyst, Decreased muscle mass, Increased circulating very long-chain fatty... |
OMIM:261515 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... |
ORPHA:97214 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Glaucoma, Cardiomyopathy, Hypertension, Retinopathy |
ORPHA:93473 |
Sanjad-Sakati Syndrome |
|
Microcephaly, Myopathy, Hyperphosphatemia, Hypocalcemia, Aplasia/Hypoplasia affecting the eye, Ve... |
ORPHA:2323 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... |
ORPHA:231222 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Microcephaly, Congenital contracture, Hypoplasia of the brainstem, Cerebel... |
OMIM:248700 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Pigmentary retinopathy, Cataract, Sclerocornea |
OMIM:614230 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Microcephaly, Partial agenesis of the co... |
ORPHA:50 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Erythema, Vasculitis, Urticaria, Seizure, Acrocyanosis, Purpura |
ORPHA:343 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Hypoc... |
OMIM:615234 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Transient ischemic attack, Supraventricular arrhythmia, Pu... |
ORPHA:3260 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Flexion cont... |
OMIM:619127 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... |
ORPHA:90348 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Ventriculomegaly, Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Lateral vent... |
ORPHA:500150 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Decreased muscle mass, Myopathy, Arthrogryposis multiplex congenita, Ventricu... |
ORPHA:2953 |
Caroli Disease |
|
Cholangitis, Portal hypertension, Conjugated hyperbilirubinemia, Weight loss, Polycystic kidney d... |
ORPHA:53035 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Bilateral tonic-clonic seizure, Apnea, Infantile spasms, Cardiac condu... |
ORPHA:255210 |
Encephalocraniocutaneous Lipomatosis |
|
Astrocytoma, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypoplasia, Hypoplasia of the corp... |
OMIM:613001 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Anemia |
OMIM:617244 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... |
OMIM:300908 |
Adrenomyodystrophy |
|
Myopathy |
ORPHA:977 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, H... |
OMIM:160900 |
Joubert Syndrome 21 |
|
Optic atrophy, Megalopapilla, Renal cyst, Chronic sinusitis, Hyperechogenic kidneys, Retinopathy |
OMIM:615636 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Pigmentary retinopathy, Skeletal myopathy, Hypocalcemia, Left ventricular hypertr... |
ORPHA:746 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy, Abnormally large globe |
ORPHA:363417 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:544503 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Hepatitis, Hemoglobinuria |
OMIM:194380 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cutis marmorata, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Seizure, Abnormal opti... |
ORPHA:109 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Developmental cataract |
OMIM:618804 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of the ureter, Abnor... |
ORPHA:261318 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension |
OMIM:615510 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma |
OMIM:253010 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness |
OMIM:112250 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium |
ORPHA:220460 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Optic atrophy, Abnormal optic nerve morphology |
ORPHA:99949 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase... |
ORPHA:466650 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Hypopl... |
OMIM:254940 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Mydriasis |
ORPHA:43116 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Optic nerve hypoplasia |
OMIM:620025 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Hypertension, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal... |
OMIM:308205 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... |
ORPHA:367 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Optic disc pallor, Respiratory insufficiency due to muscl... |
OMIM:615512 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Posterior subcapsular cataract |
OMIM:271510 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Astigmatism, Retinal coloboma, Cataract |
OMIM:618571 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, Ocular albinism, Hypochromic anemia, Iris hypopigmentation |
ORPHA:2720 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Cryptorchidism, Patent ductus arteriosus, Seizure, Pulmonary arterial hyper... |
ORPHA:2519 |
Criss-Cross Heart |
|
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Reti... |
OMIM:193300 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hypertension, C... |
ORPHA:2750 |
Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,... |
ORPHA:14 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Enthesitis, Renal phos... |
ORPHA:289176 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:264200 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... |
ORPHA:33226 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Patent ductus arteriosus, Horseshoe kidney, Hydrone... |
ORPHA:99776 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys... |
OMIM:606232 |
Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Anencephaly, Microphthalmia, Agenesis of corpus callosum |
ORPHA:2189 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Bruising susceptibility, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... |
ORPHA:169189 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Microphthalmia, Lenz Type |
|
Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:568 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Emphysema, Papillary renal cell carcinoma, Premature graying of hair, I... |
ORPHA:363618 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Anemia |
OMIM:617883 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, P... |
OMIM:105650 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Multicystic kidney dysplasia, Renal agenesis, Truncus arteriosus... |
ORPHA:2538 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication... |
DECIPHER:81 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Small for gestational age, Cerebral hemorrhage, Osteoarthritis, Flexion con... |
ORPHA:666 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Diastasis recti, Congenital diaphragmat... |
ORPHA:2092 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Mcleod Syndrome |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy, Reduced haptoglobin... |
OMIM:300842 |
Tarp Syndrome |
|
Cyanosis, Apnea, Cryptorchidism, Optic atrophy, Horseshoe kidney, Seizure, Tetralogy of Fallot, P... |
ORPHA:2886 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Hydrocephalus, Chorioretinal coloboma, Microphthalmia, Agenesis ... |
ORPHA:268249 |
Myasthenia Gravis |
|
Raynaud phenomenon, Dyspnea, Seizure, Glycosuria, Acrocyanosis |
ORPHA:589 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Developmental glaucoma, Abnormally large globe |
OMIM:245600 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Retinal atrophy, Proteinuria, Retinal pigment epithelial mo... |
OMIM:216400 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Microcephaly, Aplasia of the pectoralis major muscle, Myop... |
ORPHA:1358 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitation, Tachypnea,... |
ORPHA:555874 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Otopalatodigital Syndrome Type 2 |
|
Developmental glaucoma, Cataract |
ORPHA:90652 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Bilateral microphthalmos, Retinal coloboma, Secondary microcephaly, Hypop... |
ORPHA:508488 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormality of the kidney, Ascending aorta hypoplasia, Neonatal a... |
ORPHA:141127 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
Aicardi Syndrome |
|
Retinal detachment, Cerebellar vermis hypoplasia, Microcephaly, Chorioretinal lacunae, Partial ag... |
OMIM:304050 |
Baller-Gerold Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Optic atrophy, Optic nerve hypoplasia |
OMIM:218600 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hypertrophic cardiomyopathy, Optic atrophy, Myoclonic seizure |
OMIM:619383 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Myocardial infarct... |
ORPHA:3342 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Infantile Krabbe Disease |
|
Respiratory distress, Optic atrophy, Abnormal heart rate variability, Seizure, Respiratory failur... |
ORPHA:206436 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities |
OMIM:618822 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hepatic cysts, Pancreatic cysts, Hypertension, Ovarian cyst, Polycystic kidney dyspl... |
OMIM:311200 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Bangstad Syndrome |
|
Pancytopenia, Abnormally large globe |
OMIM:210740 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Myopathy |
ORPHA:257 |
Myopia 27, Autosomal Dominant |
|
Increased axial length of the globe |
OMIM:618827 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Cataract, Retinal coloboma, Iris coloboma |
OMIM:244300 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Chorioretinal dystrophy, Dyspnea, Optic atrophy, Respiratory failure, Abnor... |
ORPHA:2707 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Choroidal neovascularization, Abnor... |
ORPHA:51608 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Macrogl... |
OMIM:130650 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:95494 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Diastasis recti, Renal cortical cysts |
OMIM:618548 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Congestive heart failure |
ORPHA:2505 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Status epilepticus, Myoclonus |
OMIM:618201 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Diastasis recti, Elevated circulating alpha-fetoprotein concentration, Larg... |
ORPHA:116 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Congenital diaphrag... |
ORPHA:991 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Anemia, Cataract, Conjunctivitis, Corneal scarring |
OMIM:226600 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Jaundice... |
ORPHA:26793 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Proteinuria, Angina pectoris, Rod-cone dystrophy, Redu... |
ORPHA:79318 |
Caroli Syndrome |
|
Abnormal bleeding, Abnormality of the kidney, Portal hypertension, Cholangitis, Conjugated hyperb... |
ORPHA:480520 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Congenital diaphrag... |
ORPHA:2162 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Varicose veins, Macro... |
ORPHA:500095 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... |
ORPHA:98915 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cyclopia, Anophthalmia, Coloboma |
OMIM:147250 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Lathosterolosis |
|
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... |
ORPHA:46059 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Vasculitis, Seizure, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechi... |
OMIM:225750 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasia involving th... |
ORPHA:2671 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Small for gestational age, Optic atrophy, Hypertension, Pigment... |
OMIM:133540 |
Myopia 23, Autosomal Recessive |
|
Increased axial length of the globe |
OMIM:615431 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia, Prolonged neonatal jaundice |
ORPHA:226313 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Pulmonary arterial hypertension, Aortic valve stenosis, Retinopathy, Iris coloboma |
ORPHA:2396 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Retinal detachment, Hypospadias, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:607143 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... |
ORPHA:263297 |
Moebius Syndrome |
|
Respiratory distress, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:157900 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Transient ischemic attack, Thoracic aortic aneurysm, Respiratory... |
ORPHA:365 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Failure to thrive in infancy, Ectopic kidney, Patent ductus arterio... |
ORPHA:96149 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Mitral stenosis, Small for gestational age, Congenital... |
ORPHA:1596 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Abnormally large globe |
OMIM:210700 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:227650 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, HbH hemoglobin, Macular coloboma |
ORPHA:423479 |
Immunodeficiency 9 |
|
Myopathy |
OMIM:612782 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Glaucoma, Cardiomyopathy, Mitral regurgitation, Pulmona... |
OMIM:253200 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Congenital diaphragmatic hernia, Retinal coloboma, Polycystic kidney dysplasia |
OMIM:616546 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Arterial tortuosity, Patent d... |
OMIM:619472 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A... |
ORPHA:904 |
Syndromic Diarrhea |
|
Aortic regurgitation, Small for gestational age, Gastritis, Patent ductus arteriosus, Renal hypop... |
ORPHA:84064 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... |
ORPHA:1772 |
Niemann-Pick Disease, Type C1 |
|
CNS foam cells, Bone-marrow foam cells, Neurofibrillary tangles, Seizure, Prolonged neonatal jaun... |
OMIM:257220 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c... |
ORPHA:2044 |
Acute Radiation Syndrome |
|
Lymphopenia, Cataract, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Seizure, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Optic atrophy, Atrioventricular block, Pigmentary retinopathy, Reduced... |
ORPHA:581 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Granu... |
OMIM:608710 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Atrioventricular block, Bradycardia |
OMIM:614407 |
Scimitar Syndrome |
|
Respiratory distress, Left-to-right shunt, Anomalous origin of left coronary artery from the pulm... |
ORPHA:185 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic acid... |
OMIM:251100 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Patent ductus arteriosus, Renal cyst, Polycystic kidney dysplasia, Failure to thrive |
OMIM:102500 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcornea, Microphthalmia, Cataract, Pulmonary arterial hypertension |
OMIM:616449 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Meckel Syndrome 14 |
|
Mitral regurgitation, Tricuspid regurgitation, Polycystic kidney dysplasia |
OMIM:619879 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:217085 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Renal cyst, Aplasia... |
OMIM:229850 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Glandular hypospadias, Seizure, Foca... |
OMIM:620306 |
Heart And Brain Malformation Syndrome |
|
Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Cerebral atrophy, Hypoplasia... |
OMIM:616920 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Optic atrophy, Pigmentary retinopathy, Myopathy, Global brain atrophy, Cer... |
OMIM:234200 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Generalized myoclonic seizure, Optic atrophy, Respiratory distress, Generalized clonic seizure |
ORPHA:329178 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Seizure, Fetal intraventricular hemorrhage |
OMIM:618480 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Scapular winging, Renal cyst |
OMIM:272460 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k... |
ORPHA:289390 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Patent ductus arteriosus, Optic atrophy, Renal cyst, Vesicoureteral reflux |
OMIM:616975 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:217093 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia, Corneal opacity, Hypermyelinated retinal nerve fibers |
OMIM:601812 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating creatine kinase concentration, Acute rhabdomyolysis, Microcephaly, Elevated ... |
ORPHA:480864 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:35173 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Shock, Renal insufficiency, Recurrent urinary tract infections, Sinusitis, ... |
ORPHA:36234 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Aganglionic megacolon, Hypocalcemia |
ORPHA:1438 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebral cortical neurodegeneration, Gliosis, Cerebral atrophy, Astrocytosis |
OMIM:203700 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Retinal pigment epithelial mottling |
OMIM:617102 |
Frontorhiny |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:391474 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Renal agenesis, Episodic respiratory distress, Chronic pulmonary ... |
ORPHA:1199 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Seizure |
OMIM:605055 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities |
ORPHA:457365 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Heart murmur |
OMIM:618653 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Pulmonic stenosis |
OMIM:618223 |
Trisomy 10P |
|
Decreased muscle mass, Small for gestational age, Abnormality of the kidney, Multiple renal cysts... |
ORPHA:171929 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Hypospadias, Apnea, Patent ductus arteriosus, Methylmalonic aciduria, Coarc... |
ORPHA:17 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Peripheral axonal neuropathy, Facial palsy, Elevated circulating creatine kinase concentration, Q... |
ORPHA:254892 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cholangitis, Rod-cone dystrophy, Ragged-red muscle fibers, Rhabdomyolysis, Lact... |
OMIM:124000 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Bilateral tonic-clonic seizure, Apnea, Cardiac conduction abnormality, Foca... |
ORPHA:2131 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Telangiectasia, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
OMIM:601675 |
Seckel Syndrome 2 |
|
Microphthalmia, Heart murmur |
OMIM:606744 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... |
ORPHA:740 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Glaucoma, Hypertension, Chorioret... |
ORPHA:636 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Op... |
ORPHA:580 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased mean corpuscular hem... |
ORPHA:90041 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lympho... |
ORPHA:508542 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Hartsfield Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:2117 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penoscrotal hypospadias, Hypospadia... |
OMIM:270400 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Cholangitis, Patent ductus arteriosus, Recurrent pneumonia, Renal cyst, Hype... |
OMIM:613610 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Cerebellar vermis hypoplasia, Chorioretinal coloboma |
OMIM:619135 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... |
ORPHA:2479 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities |
OMIM:620326 |
Supranuclear Palsy, Progressive, 1 |
|
Cerebral atrophy, Gliosis, Retrocollis, Astrocytosis |
OMIM:601104 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Mitral regurgitation, Astigma... |
ORPHA:309282 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Lacticaciduria |
OMIM:615595 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
Meckel Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Anophthalmia, Sclerocornea, Optic atrophy, Microcorn... |
ORPHA:564 |
Martsolf Syndrome 1 |
|
Cataract, Cardiac arrest, Congestive heart failure, Developmental cataract, Cardiomyopathy, Micro... |
OMIM:212720 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Failure to thrive, Hypospadias, Abnormality of the kid... |
ORPHA:1606 |
Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
De Barsy Syndrome |
|
Cataract, Corneal opacity, Abnormal fundus fluorescein angiography |
ORPHA:2962 |
Lymphedema-Distichiasis Syndrome |
|
Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Arrhythmia, Corneal ulceration |
OMIM:153400 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Developmental glaucoma, Hepatosplenomeg... |
ORPHA:51 |
Jacobsen Syndrome |
|
Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Thrombocy... |
OMIM:147791 |
Double Outlet Left Ventricle |
|
Cyanosis, Abnormal coronary artery course, Cryptorchidism, Pulmonary artery stenosis, Patent duct... |
ORPHA:3427 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Renal neoplasm, Thoracic aortic aneurysm, Repeated pneumothoraces, Respirat... |
ORPHA:536467 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microcornea, Cataract, Zonular cataract |
OMIM:268400 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Camptodactyly of finger |
ORPHA:2547 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Asthma, Recurrent pneumonia, Me... |
ORPHA:209905 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki... |
OMIM:608328 |
Cerebrocostomandibular Syndrome |
|
Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture, Horseshoe kidney, Renal cyst |
OMIM:117650 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac... |
OMIM:200980 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Optic nerve hypoplasia, Cerebellar vermis hypoplasia, Hypocalcemia, Microcephaly |
OMIM:620330 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia |
OMIM:269200 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Ventriculomegaly, Microcephaly, Hyperphosphatemia, Hypocalcemia, Hypoplasia of the corpus callosu... |
OMIM:241410 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Acro-Renal-Ocular Syndrome |
|
Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Coloboma, Chorioretinal colobo... |
ORPHA:959 |
Poems Syndrome |
|
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Hy... |
ORPHA:2905 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Corneal opacity |
ORPHA:364577 |
Duane-Radial Ray Syndrome |
|
Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Small thenar eminence, Pectoralis hyp... |
OMIM:607323 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:617713 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Cryptorchidism, Patent ductus a... |
OMIM:217980 |
Mucopolysaccharidosis, Type Vii |
|
Cardiomyopathy, Corneal opacity |
OMIM:253220 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Anemia |
ORPHA:79396 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Dpagt1-Cdg |
|
Prolonged QT interval, Epileptic spasm, Diffuse optic disc pallor, Optic atrophy, Focal motor sei... |
ORPHA:86309 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia, Iris coloboma, Cataract |
ORPHA:2250 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Tricuspid regurgitation, Retinal dystrophy, Polycystic kidney dysplasia |
OMIM:263520 |
Scleromyxedema |
|
Myopathy, Elevated circulating creatine kinase concentration, Abnormal skeletal muscle morphology |
ORPHA:167635 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Abnormally large globe |
OMIM:618504 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Coloboma |
OMIM:611961 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Hydrocephalus, Bilateral microphthalmos, Retinal coloboma, Hydranencephaly |
ORPHA:2839 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Cataract, Eosinophilia, Keratitis, Leukocytosis, Retinal hemorrhage, Mic... |
OMIM:308300 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Thrombocytopenia, Pulm... |
OMIM:620005 |
Pituitary Apoplexy |
|
Hypertension, Hypotension, Mydriasis |
ORPHA:95613 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Eosin... |
OMIM:613795 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Patent ductus arteriosus, Renal hypoplasia, Cystic renal dysplasia |
OMIM:269860 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Arrhythmia |
ORPHA:3191 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac d... |
ORPHA:537 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Renal agenesis, Patent ductus arteriosus, Hypoplastic aortic arch... |
OMIM:306955 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the ... |
OMIM:600268 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Patent ductus arteriosus, Camptodactyly |
ORPHA:1272 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, Congestive heart failure,... |
OMIM:617156 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Abnormal retinal morphology, Dyspnea, Vitritis, Seizure, Abnorma... |
ORPHA:1546 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Phthisis bulbi, Optic atrophy, Optic nerve compression, Mydriasis |
OMIM:619727 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Dilation of Virchow-Robin spaces, Heparan sulfate excretion in urine, Myocl... |
OMIM:615273 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Microphthalmia |
OMIM:110100 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Horseshoe kidney, Seizure, Vesicoureteral reflux, Hydroneph... |
ORPHA:93260 |
Wolfram Syndrome |
|
Myopathy, Cerebral cortical atrophy, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:3463 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Failure to thrive, Facial palsy, Patent ductus arteriosus, Camptoda... |
OMIM:300373 |
Pseudoachondroplasia |
|
Skeletal myopathy |
ORPHA:750 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microcornea, Microphthalmia |
OMIM:156610 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Nephroblastoma, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of th... |
ORPHA:798 |
Cogan Syndrome |
|
Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel vasculitis, Conj... |
ORPHA:1467 |
Witteveen-Kolk Syndrome |
|
Hypospadias, Small for gestational age, Congenital diaphragmatic hernia, Phimosis, Eczema, Obesit... |
OMIM:613406 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Mydriasis |
OMIM:259720 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Optic atrophy, Hydrocele testis, Seizure |
ORPHA:79330 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Seizure, Fetal pyelectasis |
ORPHA:50810 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Microcephaly, Optic atrophy, Microp... |
ORPHA:193 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Optic atrophy, Abnormally large globe |
OMIM:300004 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microcephaly, Anencephaly, Small thenar eminence, Camptodactyly, Left ventricular hypertrophy, Mi... |
OMIM:619148 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Myopathy |
ORPHA:169090 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities |
ORPHA:684 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Coccidioidomycosis |
|
Respiratory distress, Renal insufficiency, Pericarditis, Abnormality of the kidney, Pneumonia, Ab... |
ORPHA:228123 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Hydrocephalus, Microphthalmia, Retinopathy, Ventriculomegaly |
ORPHA:77301 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ocular anterior segment dysgenesis, Bilateral microphthalmos |
ORPHA:369891 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Failure to thrive, Shoulder flexion contracture, Flexion contracture, Elbow flex... |
OMIM:210710 |
Fanconi Anemia, Complementation Group F |
|
Anemia, Microphthalmia, Thrombocytopenia, Leukopenia |
OMIM:603467 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Pulmonary arterial hypertension |
ORPHA:65286 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
Carpenter Syndrome 1 |
|
Microcornea, Pulmonic stenosis, Optic atrophy, Opacification of the corneal stroma |
OMIM:201000 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Retinal detachment, Decreased muscle mass, Peripheral axonal neuropathy, Elbow flexion contractur... |
ORPHA:1900 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Hydrocephalus |
OMIM:300863 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:373 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Aqueductal stenosis, Hydrocephalus, Abnormal optic nerve morphology, Microphthalmia |
ORPHA:3412 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Alzheimer Disease 3 |
|
Neurofibrillary tangles, Seizure, Myoclonus |
OMIM:607822 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... |
ORPHA:857 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Marfan Syndrome |
|
Retinal detachment, Flat cornea, Ectopia lentis, Lens luxation, Congestive heart failure, Increas... |
ORPHA:558 |
Joubert Syndrome 37 |
|
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum |
OMIM:619185 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cerebral atrophy |
OMIM:618494 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal bleeding, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion |
ORPHA:292 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Kniest Dysplasia |
|
Respiratory distress, Retinal detachment, Tracheomalacia |
OMIM:156550 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Renal dysplasia, Respiratory distress, Patent ductus arteriosus, Seizure, Hydronephrosis |
OMIM:300968 |
Frontofacionasal Dysplasia |
|
Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
C Syndrome |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Congenital diaphragmatic hernia, Rena... |
ORPHA:1308 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azy... |
OMIM:616749 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Hyphema, Microcornea, Ectopia pupill... |
ORPHA:261552 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Microcephaly, Cerebellar hypoplasia, Microphthalmia, Ventriculom... |
OMIM:612530 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Opacification of the corneal stroma |
ORPHA:583 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormally large globe |
ORPHA:96190 |
Monosomy 18P |
|
Microphthalmia, Hypertension |
ORPHA:1598 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, Pulmonic stenosis |
ORPHA:488632 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Unilateral renal agenesis, Patent ductus arteriosus, Stroke, Enlarged kidney |
OMIM:618188 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Hydrocephalus, Cerebellar hypoplasia |
ORPHA:163966 |
Chromosome 3Q29 Duplication Syndrome |
|
Abnormally large globe |
OMIM:611936 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Aplasia of the ... |
OMIM:619841 |
Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
Chime Syndrome |
|
Corneal opacity, Retinal coloboma |
ORPHA:3474 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor |
ORPHA:100050 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:274000 |
Arthrogryposis And Ectodermal Dysplasia |
|
Nuclear cataract |
OMIM:601701 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Anemia, Developmental cataract |
ORPHA:93325 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... |
ORPHA:464738 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Camptodactyly of finger, Abnormal aortic morph... |
ORPHA:1507 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Pulmonic stenosis, Microphthalmi... |
OMIM:235730 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Abnormality of the spleen, Splen... |
ORPHA:2072 |
Sarcoidosis |
|
Renal insufficiency, Abnormal cardiac ventricular function, Maculopapular exanthema, Hypercalcemi... |
ORPHA:797 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Iridodonesis, Megalocornea |
OMIM:249310 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Marfan Syndrome |
|
Aortic regurgitation, Retinal detachment, Cataract, Tricuspid regurgitation, Ectopia lentis, Cong... |
OMIM:154700 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Patent ductus arteriosus, Abn... |
OMIM:249000 |
Mgat2-Cdg |
|
Respiratory distress, Abnormal bleeding, Infantile spasms, Patent ductus arteriosus, Seizure, Ref... |
ORPHA:79329 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Abnormal spleen morphology |
ORPHA:2470 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small for gestational age, Coarctation of aorta, Pulmonic stenosis,... |
ORPHA:97360 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Elevated circulating creatine kinase concentration, Fatt... |
ORPHA:1320 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Elevated circulating crea... |
ORPHA:800 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Microcephaly, Optic disc coloboma, Microphthalmia, Cerebral cortical atr... |
ORPHA:251014 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension, Optic atrophy, Cryptorchidism |
ORPHA:1555 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Juxtaductal coarctation of the aorta, Perica... |
ORPHA:3310 |
Japanese Encephalitis |
|
Respiratory distress, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus, My... |
ORPHA:79139 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea |
OMIM:619869 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
Roberts Syndrome |
|
Progressive flexion contractures, Long penis, Knee flexion contracture, Polycystic kidney dysplas... |
ORPHA:3103 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
Dubowitz Syndrome |
|
Aplastic anemia, Hypoplasia of the iris, Acute lymphoblastic leukemia, Microphthalmia, Megalocorn... |
OMIM:223370 |
Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Cyanosis, Tricuspid regurgitation, Tricuspid stenosis, Valvular pulmonary stenosis, ... |
OMIM:212093 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... |
ORPHA:99125 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Patent ductus arteriosus, Multiple renal cysts, Aortic valve stenosis, Periodontitis... |
ORPHA:955 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Patent ductus arteriosus, Tricuspid regurgitation, Persistent fetal circula... |
OMIM:612863 |
Cranioectodermal Dysplasia 1 |
|
Retinal dystrophy, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney diseas... |
OMIM:218330 |
Pseudotrisomy 13 Syndrome |
|
Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus callosum |
OMIM:264480 |
Ogden Syndrome |
|
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Torticollis, Eczema, Patent duct... |
OMIM:300855 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract |
OMIM:302960 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Proximal upper limb muscle hypertr... |
ORPHA:280365 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Developmental cata... |
ORPHA:33364 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, ... |
ORPHA:818 |
Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Hallermann-Streiff Syndrome |
|
Cataract, Optic disc coloboma, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Cho... |
OMIM:234100 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Anemia, Corneal opacity |
ORPHA:2908 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Optic nerve compression, Hypogonadotropic hypogonadism |
ORPHA:91350 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Microcephaly |
ORPHA:1942 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypospadias, Optic atrophy, Hypertension, Palmoplantar cutis laxa |
OMIM:123790 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Abnormally large globe |
OMIM:603387 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia |
OMIM:614653 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati... |
OMIM:107480 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Nephrolithiasis, Death in childhood, Chronic lung disease |
OMIM:613848 |
1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:250989 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Microcephaly, Elbow flexion contracture, Knee flexion contracture, Hypoplasia of... |
ORPHA:371364 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Patent ductus arteriosus, Pulmonary arterial hypertension, Aortic valve ste... |
ORPHA:210122 |
Auriculocondylar Syndrome |
|
Respiratory distress, Vein of Galen aneurysmal malformation |
ORPHA:137888 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Optic atrophy, Microcornea, Glaucoma, Pulmonic stenosis, Peters anomal... |
ORPHA:709 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... |
ORPHA:31204 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Eczema, Coarctation of aorta, Aortic valve stenosis, Hydronephrosis |
ORPHA:2308 |
Localized Scleroderma |
|
Skeletal muscle atrophy, Flexion contracture, Myopathy |
ORPHA:90289 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Neurofibrillary tangles, Seizure, Myoclonus |
ORPHA:1020 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Camptodactyly of finger, Congenital diaphragmatic hernia, Mi... |
ORPHA:3380 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... |
OMIM:164310 |
Oculodentodigital Dysplasia |
|
Cataract, Abnormality iris morphology, Microcornea, Glaucoma, Arrhythmia |
ORPHA:2710 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Impotence |
OMIM:146500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Retinal detachment, Vitreoretinopathy |
OMIM:183900 |
Congenital Myopathy 17 |
|
Diaphragmatic eventration, Distal arthrogryposis, Myopathy |
OMIM:618975 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Iris coloboma, Unilateral microphthalmos |
OMIM:618874 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Patent ductus arteriosus, Renal duplication, Ectopic kidney |
OMIM:613309 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
EMG: myopathic abnormalities, Aplasia/Hypoplasia affecting the eye |
ORPHA:2549 |
Bent Bone Dysplasia Syndrome 1 |
|
Hepatosplenomegaly, Abnormally large globe |
OMIM:614592 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:227646 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Seizure |
OMIM:610536 |
Curry-Jones Syndrome |
|
Microphthalmia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:601707 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Hypoplasia of penis |
ORPHA:990 |
Chromosome 13Q14 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Chorioretinal coloboma, Microphthalmia, Agenesis of corpus cal... |
OMIM:613884 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Seizure |
ORPHA:438216 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Congenital diaphragmatic hernia, Microcephaly |
ORPHA:1915 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Optic atrophy, Tela... |
ORPHA:910 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Skeletal muscle atrophy, Knee flexion contracture |
ORPHA:435638 |
Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Caudate atrophy, Peripheral axonal neurop... |
ORPHA:2388 |
Achondrogenesis, Type Ii |
|
Stillbirth, Abnormally large globe |
OMIM:200610 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Absent retinal pigment epithelium, Patent ductus arteriosus, Chorioretinal ... |
ORPHA:1051 |
Femoral-Facial Syndrome |
|
Renal agenesis, Truncus arteriosus, Abnormal renal collecting system morphology, Pulmonic stenosi... |
OMIM:134780 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... |
ORPHA:97355 |
Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Phthisis bulbi, Develo... |
OMIM:300166 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia |
OMIM:259770 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:2612 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Iris coloboma |
ORPHA:1236 |
Pitt-Hopkins Syndrome |
|
Cryptorchidism, Seizure, Micropenis, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Mitral regurgitation, Megalo... |
ORPHA:284979 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Seizure, Tracheomalacia |
ORPHA:93259 |
Seckel Syndrome 1 |
|
Cryptorchidism, Pancytopenia, Abnormally large globe |
OMIM:210600 |
Cat Eye Syndrome |
|
Microphthalmia, Pulmonic stenosis, Iris coloboma, Chorioretinal coloboma |
OMIM:115470 |
Lymphatic Malformation 7 |
|
Respiratory distress, Varicose veins, Pleural effusion, Chylothorax |
OMIM:617300 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Hypogonadotropic hypogonadism, Abnormality of the kidney, Patent ductus art... |
ORPHA:177907 |
Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Cataract |
OMIM:273395 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Camptodactyly of 2nd-5th fingers |
OMIM:206920 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Oculodentodigital Dysplasia |
|
Microcornea, Microphthalmia, Arrhythmia, Cataract |
OMIM:164200 |
Monosomy 13Q14 |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:1587 |
Primrose Syndrome |
|
Posterior polar cataract |
OMIM:259050 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Patent ductus ar... |
OMIM:312870 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Optic atrophy |
OMIM:201180 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Cataract, Coloboma |
OMIM:603457 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Prolonged prothrombin time,... |
ORPHA:2330 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Joint contracture of the 5th finger, Microcephaly |
OMIM:620098 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital d... |
ORPHA:199 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Cataract, Aplasia/Hypoplasia of the iris, Leukopenia,... |
ORPHA:84 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Enuresis, S... |
ORPHA:293987 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Optic atrophy, Megalocornea, Retinopathy, Iris coloboma |
ORPHA:280 |
Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Corneal opacity |
OMIM:608670 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Nuclear cataract |
ORPHA:1010 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction |
OMIM:100800 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Asthma, Nasal flaring, Generalized non-motor (absence) seizure, S... |
ORPHA:466943 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227990 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Adnp Syndrome |
|
Respiratory distress, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, S... |
ORPHA:404448 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Neurofibrillary tangles, Seizure, Optic atrophy |
OMIM:610217 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Osteoarthritis, Subdural hemorrhage |
OMIM:619714 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Cousin Syndrome |
|
Microcornea, Microphthalmia |
OMIM:260660 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent urinary tract infections, Neonatal respiratory distress, Bilatera... |
OMIM:616268 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Abnormality of the extraocular ... |
ORPHA:79078 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227982 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Erythema, Vasculiti... |
ORPHA:221 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Microcephaly, Aplasia/Hypoplasia of the corpus callosum |
OMIM:251230 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Seizure, Jaundice, Prolonged neonatal jaundice |
OMIM:256810 |
Treacher-Collins Syndrome |
|
Microphthalmia, Cataract, Hypoplasia of the thymus, Iris coloboma |
ORPHA:861 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles |
OMIM:608907 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance |
OMIM:614557 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hy... |
ORPHA:401973 |
Multiple Endocrine Neoplasia, Type Iib |
|
Ganglioneuroma, Myopathy, Aganglionic megacolon, Pheochromocytoma |
OMIM:162300 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
Barth Syndrome |
|
Skeletal myopathy |
OMIM:302060 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Optic atrophy, Camptodactyly of 2nd-5th fingers, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
Microform Holoprosencephaly |
|
EMG: myopathic abnormalities, Agenesis of corpus callosum, Microcephaly |
ORPHA:280200 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing... |
ORPHA:287 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Cataract, Retinal pigment epithelial atrophy, Retinal... |
ORPHA:64 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles |
OMIM:619132 |
Gerstmann-Straussler Disease |
|
Neurofibrillary tangles, Myoclonus |
OMIM:137440 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Telangiectasia of the skin, Transient ischemic attack, Abnormal pupil morphology, Re... |
ORPHA:286 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Cryptorchidism, Emphysema, Micropenis |
OMIM:224690 |
Frontonasal Dysplasia 2 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the corp... |
OMIM:613451 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Hypertrophic cardiomyopathy, Mitral... |
OMIM:252500 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Microphthalmia, Pterygium, Corneal ulce... |
OMIM:263650 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles |
OMIM:606688 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Hypospadias, Epispadias, Dyspnea, Cryptorchidism, Resp... |
ORPHA:2554 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Facial palsy, Elbow flexion contracture, Renal cyst, Retinal coloboma |
OMIM:113620 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Abnormally large globe |
ORPHA:1655 |
Knobloch Syndrome 2 |
|
Anterior cortical cataract |
OMIM:618458 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Congestive heart failure, Developmental cataract |
ORPHA:2108 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Respiratory distress, Bilateral tonic-clonic s... |
ORPHA:79500 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Uveitis, Astigmatism, Conjunctivitis |
ORPHA:2273 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Stridor, Seizure, Trache... |
OMIM:114290 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Diastasis recti, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Opti... |
OMIM:305600 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Abnormally large globe |
OMIM:239300 |
Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Anemia |
OMIM:614083 |
Holoprosencephaly 7 |
|
Microcephaly, Partial agenesis of the corpus callosum, Bilateral microphthalmos, Hydrocephalus, H... |
OMIM:610828 |
Fraser Syndrome 1 |
|
Anophthalmia, Corneal opacity, Bilateral microphthalmos |
OMIM:219000 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Cataract |
ORPHA:306542 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Micropenis, Hydronephrosis |
OMIM:606170 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Ureteral duplication, Patent ductus arteriosus, Pulmonary artery stenosis, ... |
ORPHA:2255 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Mandibuloacral Dysplasia |
|
Abnormally large globe |
ORPHA:2457 |
Charge Syndrome |
|
Anophthalmia, Facial palsy, Microcephaly, Aqueductal stenosis, Optic atrophy, Chorioretinal colob... |
ORPHA:138 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia |
ORPHA:2052 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Hypoplasia of facial musculature, Ectopic kidney, P... |
OMIM:164210 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteri... |
OMIM:180849 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion |
OMIM:620369 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Flexion contracture, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvi... |
ORPHA:2152 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Microcephaly, Cerebellar hypoplasia, Chorioretinal colob... |
OMIM:157170 |
Plague |
|
Tachycardia, Hematemesis, Hypotension, Arrhythmia, Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Pulmonary art... |
ORPHA:261537 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Bilateral microphthalmos, Renovascular hypertension, Hypertension, Cardio... |
ORPHA:3472 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Opacification of the corneal stroma |
OMIM:601559 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Craniometadiaphyseal Dysplasia |
|
Abnormally large globe |
OMIM:269300 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Ankle flexion contracture, Patent ductus arteriosus, Long penis, Elbow flexion contr... |
OMIM:268300 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Myopathy, Microcephaly |
OMIM:612541 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Cryptorchidism, Chordee, Hypospadias |
OMIM:166250 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Aplasia... |
OMIM:607932 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Facial palsy, Optic disc coloboma, Unconjugated hyperbilirubinemia, Microphthalmia, Right ventric... |
OMIM:620186 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles |
OMIM:616840 |
Monosomy 9P |
|
Microphthalmia, Agenesis of corpus callosum, Congenital diaphragmatic hernia, Microcephaly |
ORPHA:261112 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Optic disc hypoplasia, Optic atrophy, Pigmentary retinopathy, Pulmonic... |
ORPHA:3455 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Pulmonic stenosis, Hypoplastic spleen |
OMIM:601186 |
Myhre Syndrome |
|
Microphthalmia, Aortic valve stenosis, Cataract, Hypertension |
OMIM:139210 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles |
OMIM:607485 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Abnormality of the menstrual cycle, Venous insufficiency, Cystocele, Decreased fertility, ... |
ORPHA:285 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microcornea, Microphthalmia |
OMIM:616734 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Mi... |
ORPHA:2166 |
Neu-Laxova Syndrome 1 |
|
Ventriculomegaly, Cerebellar hypoplasia, Camptodactyly, Hydranencephaly, Microphthalmia, Primary ... |
OMIM:256520 |
Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Seizure, Myoclonus |
ORPHA:199351 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Microcephaly, Camptodactyly |
OMIM:272950 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Digeorge Syndrome |
|
Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Posterior embryotoxon, An... |
OMIM:188400 |
Renpenning Syndrome 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:309500 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
Hydrolethalus Syndrome 1 |
|
Anencephaly, Agenesis of corpus callosum, Severe hydrocephalus, Microphthalmia, Agenesis of the d... |
OMIM:236680 |
Okamoto Syndrome |
|
Aortic valve stenosis, Astigmatism, Abnormally large globe |
ORPHA:2729 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta |
OMIM:617088 |
Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus |
OMIM:617666 |
Charge Syndrome |
|
Anophthalmia, Cataract, Unilateral microphthalmos, Coloboma, Retinal coloboma, Pulmonic stenosis,... |
OMIM:214800 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Flexion contracture, Myopathy |
ORPHA:3042 |
Pallister-Killian Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Patent ductus arteriosus, Flexion contracture, Obes... |
OMIM:601803 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Popliteal pterygium, Microphthalmia, Antecubital pterygium |
OMIM:609945 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Cryptorchidism, Micropenis, Hydronephrosis |
ORPHA:83617 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the abdominal wall musculature, Hydroce... |
OMIM:612289 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Respiratory distress, Patent ductus arteriosus, Seizure, Cardiomyopathy, Hydrone... |
ORPHA:480880 |
Holoprosencephaly 1 |
|
Microphthalmia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:236100 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles |
OMIM:606889 |
Neurooculorenal Syndrome |
|
Iris atrophy, Cryptorchidism |
OMIM:620305 |
Coffin-Lowry Syndrome |
|
Seizure, Mitral regurgitation, Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Ventriculomegaly, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:100300 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Abnormally large globe |
ORPHA:435628 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia |
OMIM:617925 |
Keppen-Lubinsky Syndrome |
|
Abnormally large globe |
OMIM:614098 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioretinal coloboma, Mi... |
OMIM:309800 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyglutaric aciduri... |
ORPHA:99646 |
Supranuclear Palsy, Progressive, 2 |
|
Neurofibrillary tangles |
OMIM:609454 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension |
OMIM:216340 |
Pallister-Hall Syndrome |
|
Microphthalmia, Distal arthrogryposis, Cerebellar hypoplasia, Hypothalamic hamartoma |
ORPHA:672 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Increased axial length of the globe |
ORPHA:513456 |
Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
|
OMIM:618564 |