Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity, Ectopia lentis |
OMIM:238700 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Morm Syndrome |
|
Retinal atrophy, Hyperactivity, Cataract, Retinal dystrophy |
ORPHA:75858 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... |
OMIM:613801 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Cataract |
ORPHA:254704 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... |
OMIM:212550 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... |
OMIM:193230 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract |
OMIM:273680 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration |
OMIM:618195 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612922 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Chromosome breakage |
OMIM:613390 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Leber Congenital Amaurosis 1 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, ... |
OMIM:204000 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria, Hyperactivity, Hyperprolinemia |
OMIM:239500 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612925 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... |
OMIM:251270 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia |
OMIM:613154 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Gyrate Atrophy Of Choroid And Retina |
|
Subcapsular cataract, Hyperornithinemia, Chorioretinal hyperpigmentation, Aminoaciduria, Abnormal... |
ORPHA:414 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity |
OMIM:300928 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... |
OMIM:305390 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea, Rod-cone dystrophy |
OMIM:619082 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Phenylketonuria |
|
Hyperactivity, Blue irides, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disor... |
OMIM:261600 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Decreas... |
OMIM:616959 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... |
OMIM:274150 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... |
OMIM:312600 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
C3 Glomerulopathy |
|
Central serous chorioretinopathy, Elevated circulating creatinine concentration, Yellow/white les... |
ORPHA:329918 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... |
OMIM:152950 |
Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration |
OMIM:607665 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Homocystinuria, Hyper... |
OMIM:277410 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism |
OMIM:619927 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Anemia, Cataract, Elevated transferrin saturation |
OMIM:606069 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficiency anemia, Asti... |
OMIM:618885 |
Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Cataract, Elevated levels of phytanic acid |
OMIM:614879 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... |
ORPHA:67043 |
Congenital Primary Aphakia |
|
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... |
ORPHA:83461 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Papillorenal Syndrome |
|
Macular degeneration, Lens luxation, Retinal coloboma, Morning glory anomaly, Chorioretinal atrop... |
OMIM:120330 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration, Retinal dystrophy |
OMIM:266900 |
Galactosemia I |
|
Increased level of galactitol in red blood cells, Aminoaciduria, Increased level of galactitol in... |
OMIM:230400 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Cataract, Epiretinal memb... |
ORPHA:279914 |
Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... |
OMIM:612109 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Cataract, Attenuation of retinal blood vessels |
OMIM:614376 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Congenital Disorder Of Glycosylation, Type Ih |
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Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia |
OMIM:608104 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Elevated circulating creatinine concentration |
ORPHA:567544 |
Methylcobalamin Deficiency Type Cble |
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Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Retinal coloboma, Cataract, Rod-cone dystrophy |
OMIM:601794 |
Cataract 15, Multiple Types |
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Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Cataract 47 |
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Cataract, Microcornea |
OMIM:612018 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Abnormal retinal vascular morphology, Macular edema, Normocytic anemia, Retinal neovascularizatio... |
ORPHA:247691 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Microcornea, Aniridia |
OMIM:106230 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Retinal coloboma, Cataract, Rod-cone dystrophy |
ORPHA:363741 |
Bardet-Biedl Syndrome 9 |
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Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... |
OMIM:615986 |
Fanconi Anemia, Complementation Group N |
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Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration |
OMIM:242530 |
Diffuse Alveolar Hemorrhage |
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Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:90060 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Fanconi Anemia, Complementation Group I |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Persistent Hyperplastic Primary Vitreous |
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Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Enhanced S-Cone Syndrome |
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Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis |
OMIM:268100 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Elevated circulating creatinine concentration |
OMIM:616733 |
Anterior Segment Dysgenesis 7 |
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Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy |
OMIM:263100 |
Nephronophthisis-Like Nephropathy 2 |
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Elevated circulating creatinine concentration |
OMIM:619468 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Aniridia 1 |
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Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... |
OMIM:106210 |
Idiopathic Panuveitis |
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Cystoid macular edema, Cataract, Choroidal neovascularization, Epiretinal membrane, Vitreous floa... |
ORPHA:280921 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Vitreous hemorrhage, Elevated circulating C-reactive protein concentration, Aminoaciduria, Abnorm... |
ORPHA:91500 |
Anterior Segment Dysgenesis 2 |
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Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Blackfan-Diamond Anemia |
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Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Renal Tubular Acidosis, Distal, 1 |
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Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Wolfram Syndrome 1 |
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Megaloblastic anemia, Pigmentary retinopathy, Thrombocytopenia, Optic atrophy, Cataract, Siderobl... |
OMIM:222300 |
Histidinemia |
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Hyperhistidinemia, Histidinuria, Hyperactivity |
ORPHA:2157 |
Immunodeficiency 96 |
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Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... |
OMIM:619774 |
Beta-Thalassemia Intermedia |
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Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Fanconi Renotubular Syndrome 3 |
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Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
Purine Nucleoside Phosphorylase Deficiency |
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Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... |
ORPHA:760 |
Dopamine Beta-Hydroxylase Deficiency |
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Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Ataxia-Telangiectasia |
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Abnormality of chromosome stability |
ORPHA:100 |
Acute Interstitial Pneumonia |
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Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal circulating g... |
ORPHA:247598 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Astigmatism |
ORPHA:261250 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
Fanconi Anemia, Complementation Group L |
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Chromosomal breakage induced by crosslinking agents, Chromosome breakage |
OMIM:614083 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... |
OMIM:223900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... |
OMIM:608836 |
Shwachman-Diamond Syndrome |
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Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm... |
ORPHA:811 |
Bloom Syndrome |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:210900 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
Beta-Thalassemia Major |
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Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Diamond-Blackfan Anemia 7 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Fanconi Anemia, Complementation Group F |
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Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Chromosome 16Q12 Duplication Syndrome |
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Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Decreased HDL choleste... |
ORPHA:85450 |
Cataract 5, Multiple Types |
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Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Werner Syndrome |
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Hypertriglyceridemia, Elevated hemoglobin A1c, Cataract, Retinal degeneration |
OMIM:277700 |
Pierson Syndrome |
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Remnants of the hyaloid vascular system, Hypoproteinemia, Uveal ectropion, Retinal detachment, Po... |
OMIM:609049 |
Fanconi Anemia, Complementation Group E |
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Chromosomal breakage induced by crosslinking agents |
OMIM:600901 |
Nephronophthisis 2 |
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Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Fanconi Anemia, Complementation Group A |
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Chromosomal breakage induced by crosslinking agents |
OMIM:227650 |
Lead Poisoning |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo... |
ORPHA:330015 |
Juvenile Nephropathic Cystinosis |
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Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Corneal c... |
ORPHA:411634 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
Bacterial Toxic-Shock Syndrome |
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Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... |
ORPHA:36234 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Hypomagnesemia, Hypokalemia, Hyperactivity |
OMIM:618314 |
Icf Syndrome |
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Abnormality of chromosome stability, Umbilical hernia |
ORPHA:2268 |
Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227645 |
Multiple Myeloma |
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Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia |
ORPHA:29073 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Recurrent corneal erosions, Opaci... |
OMIM:256800 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Fanconi Anemia, Complementation Group D2 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227646 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... |
ORPHA:99826 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Anemia, Abnormal hemoglobin |
ORPHA:847 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Optic disc coloboma |
ORPHA:2260 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
Hemorrhagic Fever-Renal Syndrome |
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Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... |
ORPHA:340 |
Argininemia |
|
Hyperargininemia, Diaminoaciduria, Hyperactivity, Hyperammonemia |
OMIM:207800 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Abnormality of chromosome stability |
ORPHA:175 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Hypochr... |
ORPHA:97214 |
Revesz Syndrome |
|
Abnormality of chromosome stability |
OMIM:268130 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Retinal degeneration, Pigmentary retinopathy, Acanthocytosis, Optic atrophy |
OMIM:234200 |
Yellow Fever |
|
Neutrophilia, Leukocytosis, Hyperbilirubinemia, Elevated circulating creatine kinase concentratio... |
ORPHA:99829 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:449395 |
Fanconi Anemia |
|
Spina bifida, Abnormality of chromosome stability, Umbilical hernia |
ORPHA:84 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability |
ORPHA:647 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb... |
OMIM:619534 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |