Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Vitreou... |
OMIM:312700 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po... |
OMIM:615382 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... |
OMIM:615631 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, R... |
OMIM:619902 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment |
ORPHA:90050 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Abnormal bleeding, Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ... |
ORPHA:86841 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... |
OMIM:221900 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... |
OMIM:613673 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria,... |
OMIM:604273 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... |
OMIM:602088 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular catara... |
ORPHA:39044 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi... |
ORPHA:98870 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, ... |
OMIM:616860 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Splenomegaly, Thrombocytopenia, Hepatosplenome... |
ORPHA:464329 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage, Subcapsular cataract, Tractional retinal detachment |
OMIM:601813 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhag... |
OMIM:193220 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Orotic Aciduria |
|
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased m... |
OMIM:616959 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c... |
OMIM:611773 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Flexion contracture, Optic atr... |
OMIM:617303 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... |
ORPHA:3156 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... |
ORPHA:1473 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal... |
OMIM:193235 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b... |
OMIM:300908 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Morm Syndrome |
|
Micropenis, Cataract, Retinal atrophy, Abnormality of the kidney |
ORPHA:75858 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endothelium morphology,... |
ORPHA:209959 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myoc... |
ORPHA:182050 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ecchymosis, ... |
ORPHA:99827 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Vitreous hemorrhage, Abnorma... |
ORPHA:891 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Vitreous hemorrhage, Subcapsular cataract, Retinal neovascularization |
OMIM:133780 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Cataract, Hepatomegaly, Long-chain di... |
OMIM:608836 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif... |
ORPHA:464321 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Conjunctivitis, Hernia, Tricuspid regurgitation, Hepatosplenomeg... |
ORPHA:505248 |
Lujo Hemorrhagic Fever |
|
Shock, Lymphopenia, Renal insufficiency, Excessive bleeding after a venipuncture, Myocarditis, Le... |
ORPHA:319213 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperte... |
ORPHA:251004 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... |
OMIM:203780 |
H Syndrome |
|
Lipodystrophy, Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physi... |
ORPHA:168569 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cy... |
OMIM:615415 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST ... |
OMIM:261740 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci... |
OMIM:276700 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... |
OMIM:194080 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia,... |
OMIM:608022 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Vasculitis ... |
OMIM:617718 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Inguinal hernia, Transient neutropenia... |
ORPHA:500095 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Thrombocytopenia, Developmental cataract, Supravalvar pu... |
OMIM:620185 |
Marburg Hemorrhagic Fever |
|
Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal... |
ORPHA:99826 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephritis, Aminoa... |
ORPHA:91500 |
Central Retinal Vein Occlusion |
|
Papilledema, Abnormal anterior eye segment morphology, Intraretinal hemorrhage, Macular degenerat... |
ORPHA:411527 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Keratoconjunctivitis sicca, Pulmonary venous hypertension, Abno... |
ORPHA:79128 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Leptospirosis |
|
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Conjunctival hypere... |
ORPHA:509 |
Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Macular degeneration, Macular hemorrhage |
OMIM:603075 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy |
OMIM:613731 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connectiv... |
ORPHA:79277 |
Juvenile Xanthogranuloma |
|
Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hepatomegaly, Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glom... |
OMIM:232200 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... |
OMIM:222300 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Asplenia, Splenomegaly, Stage 5 chronic k... |
OMIM:208540 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Hepatomegaly, Proteinuria, Epistaxis, Chronic neutropenia, Prolonged bleeding ... |
ORPHA:79259 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Hypertension, Focal segmental glomerulo... |
OMIM:232220 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Limbal stem cell ... |
ORPHA:2334 |
Papillorenal Syndrome |
|
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Renal malrotation, Lens ... |
OMIM:120330 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Telangiectasia of the skin, Multiple lipomas, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Cardiomegaly, Congestive heart failure, Sple... |
OMIM:252500 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... |
ORPHA:86839 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocytosis, Hepato... |
OMIM:618278 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Dilated cardiomyopathy, Ventricular ta... |
OMIM:615184 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Polysplenia, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... |
OMIM:212550 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Hyperparathyroidism, Transient Neonatal |
|
Inguinal hernia, Unilateral renal agenesis, Splenic cyst, Umbilical hernia, Enlarged kidney |
OMIM:618188 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical ... |
OMIM:130650 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias |
ORPHA:1381 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Abnormal renal physiology, Arrh... |
OMIM:266500 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... |
ORPHA:731 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Normocytic anemia, Epistaxis, Abn... |
ORPHA:33226 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Eosinophilia, Urinary bladder inflammation, Renal... |
ORPHA:449395 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular atrophy, Reticular pigmentary degeneration, Granular... |
ORPHA:75376 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cockayne Syndrome Type 3 |
|
Flexion contracture, Microcornea, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atroph... |
ORPHA:90324 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Lipodystrophy, Ure... |
ORPHA:79328 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Stage 5 chr... |
OMIM:308940 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Ureteral duplication, Inguinal hernia, Hepatomegaly, Nephroblastoma, Congenital diap... |
ORPHA:116 |
Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Polycythemia, Cardiomegaly, Thrombocytopenia, Ventric... |
OMIM:300855 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Peroxisome Biogenesis Disorder 10B |
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Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Lethal Congenital Contracture Syndrome 5 |
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Congenital contracture, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Norrie Disease |
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Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Retinoblastoma |
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Retinal calcification, Vitreous hemorrhage, Leukemia, Leukocoria |
OMIM:180200 |
Meacham Syndrome |
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Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... |
OMIM:608978 |
Alpha-Mannosidosis, Adult Form |
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Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Oligosaccharidu... |
ORPHA:309288 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Urinary incontinence, Asplenia, Abnormal pupil morphology, Flexion contracture, Microcornea, Vesi... |
ORPHA:261552 |
Familial Isolated Hypoparathyroidism |
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Nephropathy, Arrhythmia, Cataract, Abnormal dental enamel morphology |
ORPHA:2238 |
Heterotaxy, Visceral, 1, X-Linked |
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Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Pulmonic ste... |
OMIM:306955 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... |
ORPHA:508 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent urinary tract infections, Heart murmur, Enuresis nocturna, Mitral regurgitation, Astigm... |
OMIM:615873 |
Isolated Aniridia |
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Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Cockayne Syndrome |
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Urinary incontinence, Congenital contracture, Lentiglobus, Retinal degeneration, Hepatomegaly, Re... |
ORPHA:191 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Macular de... |
OMIM:177850 |
Microphthalmia, Syndromic 5 |
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Cataract, Optic nerve hypoplasia, Microcornea, Coloboma, Micropenis |
OMIM:610125 |
Intermediate Uveitis |
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Cataract, Macular scar, Band keratopathy, Vasculitis, Tubulointerstitial nephritis, Posterior syn... |
ORPHA:279914 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Exudative Vitreoretinopathy 6 |
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Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Prolonged bleeding time, Tachycardia, Congenital diaphragmatic hernia, Enlarged... |
OMIM:618280 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Rift Valley Fever |
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Abnormal bleeding, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Melena, Hematuria, Gingival... |
ORPHA:319251 |
Fuchs Heterochromic Iridocyclitis |
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Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Stromme Syndrome |
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Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... |
OMIM:243605 |
Dent Disease |
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Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,... |
ORPHA:1652 |
Incontinentia Pigmenti |
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Retinal detachment, Cataract, Telangiectasia of the skin, Corneal opacity, Abnormal dental enamel... |
ORPHA:464 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, H... |
ORPHA:394 |
Fabry Disease |
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Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Neph... |
ORPHA:324 |
Aniridia-Absent Patella Syndrome |
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Aniridia, Inguinal hernia, Cataract |
ORPHA:1069 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Cataract, Band keratopathy, Enamel hypomineralization, Hypovolemia, Bicarbonat... |
ORPHA:47159 |
Aniridia And Absent Patella |
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Aniridia, Cataract |
OMIM:106220 |
Sympathetic Ophthalmia |
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Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ... |
ORPHA:79098 |
Incontinentia Pigmenti |
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Retinal detachment, Cataract, Scarring, Eosinophilia, Keratitis, Leukocytosis, Optic atrophy, Ret... |
OMIM:308300 |
Oculoauricular Syndrome |
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Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Inguinal hernia, Hypospadias, Nephroblastoma, Congenital diaphragmatic hernia, Sple... |
OMIM:312870 |
Granulomatosis With Polyangiitis |
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Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Granu... |
OMIM:608710 |
Acro-Renal-Ocular Syndrome |
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Renal malrotation, Cataract, Renal hypoplasia/aplasia, Optic disc coloboma, Horseshoe kidney, Mic... |
ORPHA:959 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaci... |
OMIM:617913 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia |
OMIM:614653 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Hypospadias, Sclerocornea, Congenital diaphragmatic hernia, Junctional ectopic tachycar... |
OMIM:309801 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmen... |
OMIM:175780 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
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Inguinal hernia, Lipodystrophy, Abnormal subcutaneous fat tissue distribution, Subretinal pigment... |
ORPHA:357074 |
Acromelic Frontonasal Dysostosis |
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Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... |
OMIM:603671 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Flexion contracture, De... |
OMIM:300166 |
Trichinellosis |
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Anisocoria, Conjunctival hyperemia, Conjunctivitis, Retinal hemorrhage |
ORPHA:863 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Full Nf2-Related Schwannomatosis |
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Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Neuroocular Syndrome |
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Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Generalized Arterial Calcification Of Infancy |
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Hyperphosphaturia, Transient ischemic attack, Cardiomegaly, Retinal hemorrhage, Nephrocalcinosis,... |
ORPHA:51608 |
Holoprosencephaly 2 |
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Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... |
ORPHA:544482 |