Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystro... |
OMIM:615995 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Malaria |
|
Retinopathy, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein con... |
ORPHA:673 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Micropenis, Neonatal hyperbilirubinemia, Retinal degeneration |
ORPHA:3363 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Rotor Syndrome |
|
Bilirubinuria, Conjugated hyperbilirubinemia, Conjunctival icterus, Porphyrinuria, Hyperbilirubin... |
ORPHA:3111 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Nathalie Syndrome |
|
Arrhythmia, Cataract |
ORPHA:2663 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Cataract 50 With Or Without Glaucoma |
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Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... |
OMIM:620010 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Cataract, Abnormal chorioretinal morphology, Proteinuria, Congestive heart f... |
ORPHA:225 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chronic kidney disease, Stage 5... |
ORPHA:3156 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy |
OMIM:183800 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Brachydactyly, Renal insufficiency... |
OMIM:615986 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Progressive cataract, Optic nerve dysplasia, Development... |
OMIM:246000 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur... |
OMIM:204000 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Hypoplasia of the ulna, Cataract, Broad hallux, Limited elbow extension, Shor... |
ORPHA:1856 |
Morm Syndrome |
|
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Sho... |
OMIM:609115 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... |
ORPHA:1473 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... |
OMIM:204200 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal, Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia, Galactosuria |
OMIM:230200 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h... |
OMIM:616299 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho... |
OMIM:132450 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... |
OMIM:615184 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Talipes equinovarus, Re... |
OMIM:616171 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Hijazi-Reis Syndrome |
|
Astigmatism, Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic ... |
OMIM:208500 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... |
ORPHA:171844 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Retinal... |
ORPHA:166011 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Epiphyseal dysplasia, Cataract, Genu valgum, Vitreoretinopathy, Astigmatism, ... |
ORPHA:250984 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cataract, Congestive heart failure, Elevated circulating phytanic acid c... |
OMIM:266500 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
2Q24 Microdeletion Syndrome |
|
Cataract, Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... |
ORPHA:1617 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased cir... |
OMIM:614307 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Decreased plasma free c... |
OMIM:608836 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... |
OMIM:221900 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract |
ORPHA:324416 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Cataract, Arachnodactyly, Long fingers, Abnormal vitreous humor morphology |
OMIM:604841 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... |
ORPHA:414 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Achondrogenesis Type 2 |
|
Retinal detachment, Cataract, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal o... |
ORPHA:93296 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Retinal dystrophy |
OMIM:610156 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Congestive heart failure, Nephrotic syndrome, Metaphyseal irregula... |
OMIM:269920 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Cataract, Toe syndactyly, Abnormal cornea morphology, Hypophosphatemia, Retinop... |
ORPHA:2611 |
Idiopathic Congenital Hypothyroidism |
|
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Bradycardia, Neo... |
ORPHA:95717 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bilateral talipes eq... |
ORPHA:544469 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Retinal dystrophy, Hyperbilirubinemia |
ORPHA:713 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the hand, Juvenile cataract, Short 5th metaca... |
ORPHA:1264 |
Marinesco-Sjögren Syndrome |
|
Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morpho... |
ORPHA:559 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen... |
OMIM:615181 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Conjugated hyperbilirubinemia, Renal cyst, Tricuspid regurgitati... |
OMIM:614866 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Brachydactyly, Cataract, Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, Metaphys... |
OMIM:614376 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Infantile Refsum Disease |
|
Cataract, Optic atrophy, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnorm... |
ORPHA:772 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract, Broad thumb |
ORPHA:3173 |
Lissencephaly 8 |
|
Talipes equinovarus, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Abnormal epiphysis morphology, ... |
ORPHA:90653 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
Axial Spondylometaphyseal Dysplasia |
|
Cataract, Retinal dystrophy, Peripheral retinal degeneration, Iliac crest serration, Proximal fem... |
ORPHA:168549 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of the proximal ... |
ORPHA:363417 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosa... |
OMIM:252600 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Portal hypertension, Increased serum bile acid concentration, Increased total iron binding capaci... |
OMIM:616278 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... |
ORPHA:464321 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... |
OMIM:614643 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
ORPHA:363741 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:613153 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia |
ORPHA:272 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... |
ORPHA:791 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Abn... |
ORPHA:95716 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,... |
ORPHA:14 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Bilateral single transverse palmar creases, Ren... |
ORPHA:2377 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Urinary inconti... |
OMIM:609033 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Abnormal urinary color, Increased total bilirubin |
ORPHA:90037 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... |
ORPHA:2714 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Retinal dystrophy, Sclerocornea, Proximal placement of thumb, Microc... |
ORPHA:139471 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Broad palm, Genu v... |
ORPHA:2712 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Vesico... |
ORPHA:959 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Nance-Horan Syndrome |
|
Microcornea, Retinal detachment, Short metacarpal, Cataract |
ORPHA:627 |
Isolated Atp Synthase Deficiency |
|
Cataract, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutac... |
ORPHA:254913 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Increased circulating ferritin concentration, Red urine, ... |
OMIM:618892 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Cataract, Coxa valga, Abnormality of the elbow, Flat acetabular roof, Flatten... |
ORPHA:163649 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Proteinuria, Abnormal retinal vascular mor... |
ORPHA:247691 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve sten... |
ORPHA:3449 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Cataract, Broad hallux, Single tr... |
OMIM:614105 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Reti... |
ORPHA:899 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M... |
ORPHA:2557 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Flared metaphysis, Hypocalcemia, Hyperbilirubinemia, Hip sublux... |
OMIM:259720 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... |
ORPHA:1345 |
Kniest Dysplasia |
|
Retinal detachment, Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed epi... |
OMIM:156550 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal serum bile ac... |
ORPHA:79303 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Short metacarpal, Cataract, Epiphyseal dysplasia, Sandal gap, Abnormal pelvis... |
ORPHA:1427 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Hip dysplas... |
OMIM:613404 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... |
OMIM:232800 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, 2-3 toe synda... |
ORPHA:163979 |
Kniest Dysplasia |
|
Retinal detachment, Enlarged epiphyses, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous ... |
ORPHA:485 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Optic nerve hyp... |
ORPHA:370959 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Hyperammonemia,... |
ORPHA:1667 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Cataract, Hydroureter, Optic atrophy, Limited mobility of proximal interphala... |
OMIM:222300 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Renal insufficiency, Heart block... |
ORPHA:773 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili... |
OMIM:613070 |
Lathosterolosis |
|
Cataract, Toe syndactyly, Postaxial hand polydactyly, Horseshoe kidney, Postaxial foot polydactyl... |
OMIM:607330 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Hemochromatosis, Type 4 |
|
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomy... |
OMIM:606069 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure... |
OMIM:607323 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Single transverse palmar crease, Brushfield spots, Cubitus valgus, Metatarsus adductus,... |
OMIM:214110 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Bachmann-Bupp Syndrome |
|
Clinodactyly of the 5th finger, Hyperbilirubinemia |
OMIM:619075 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Cataract, Elevated circulating creatine kinase concentration, Retinal degeneration |
OMIM:615249 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Cataract, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:614879 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, Neonatal hyperbilirubinemia, Cli... |
ORPHA:73272 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:588 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Epistaxis, Clinodactyly, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Kapur-Toriello Syndrome |
|
Cataract, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Retinal coloboma... |
OMIM:244300 |
Fumarase Deficiency |
|
Increased urine succinate level, Conjunctival icterus, Optic atrophy, Elevated urine fumaric acid... |
OMIM:606812 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Neurogenic bladder, Cataract |
OMIM:619780 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hematochezia, Hyperbilirubinemia |
OMIM:214950 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract |
OMIM:612674 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Hepatoportal Sclerosis |
|
Portal hypertension, Hypoalbuminemia, Hyperbilirubinemia, Gastrointestinal hemorrhage |
ORPHA:64743 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Congestive heart... |
OMIM:617156 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... |
OMIM:604278 |
Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Astigmatism, Stage 5 chronic kidney disease |
OMIM:612285 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Brachydactyly, ... |
OMIM:209900 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Hyperbilirub... |
OMIM:614886 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Hip dysplasia, Aminoacid... |
OMIM:208085 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Dicarboxylic aciduria, Posterior embryotoxon, Increased circulatin... |
OMIM:614887 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Radial bowing, Lens luxation, Hypoplastic ilia, Coxa valga, Ulnar b... |
OMIM:154780 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia |
OMIM:609727 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Sandal gap, Proteinuria, Abno... |
ORPHA:2715 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Pigmentary retinopathy, Cataract, Elevated circulating creatine kinase concentration |
ORPHA:79095 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Decreased circulating plasmalogen concentration, Cataract, Rhizomelia, Optic nerve... |
OMIM:222765 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... |
ORPHA:93400 |
Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma, Micropenis |
OMIM:610125 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Hydroureter, Optic disc colobo... |
ORPHA:568 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Proteinuria, ... |
OMIM:277900 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Cataract, Zonular cataract, Brachydactyly |
ORPHA:168577 |
Graft Versus Host Disease |
|
Tachycardia, Dupuytren contracture, Hyperbilirubinemia, Limited elbow movement |
ORPHA:39812 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Optic atrophy, Ectopia pupillae, Astigmatism, Clinodactyly, 3... |
OMIM:618727 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... |
OMIM:619662 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Micropenis, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Hypertrophic cardio... |
OMIM:613673 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Generalized aminoacidu... |
OMIM:251880 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Broad hallux phalanx, Cataract, Corneal opacity, Optic atrop... |
ORPHA:585 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal urinary color |
ORPHA:234 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Abno... |
ORPHA:90673 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
X-Linked Intellectual Disability, Nascimento Type |
|
Overlapping toe, Hypospadias, Clubbing of toes, Developmental cataract, Short foot, Micropenis, B... |
ORPHA:163956 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Nuclear cataract, Cataract, Hyperkalemia |
OMIM:608885 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Single transverse palmar crease, Supravalvar pulmonary s... |
OMIM:620185 |
Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Optic atrophy, Developmental cataract, Microcornea, Micropenis, Clinod... |
OMIM:614225 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Epistaxis |
OMIM:211600 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodac... |
OMIM:161200 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Pigmentary reti... |
ORPHA:88628 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration |
ORPHA:370997 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Cataract, Ventricular arrhythmia, Abnormal left v... |
ORPHA:36913 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Cataract, Hypospadias, Single transverse palmar crease, Congestive heart fa... |
OMIM:619475 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Rh Deficiency Syndrome |
|
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma |
ORPHA:2791 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Epiphyseal dysplasia, Cataract, Congenital hip dislocation, Optic atrop... |
OMIM:617913 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Ogden Syndrome |
|
Global glomerulosclerosis, Congenital hip dislocation, Sandal gap, Broad hallux, Metatarsus valgu... |
OMIM:300855 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Lacticaciduria, Hyperammonemia, Hy... |
ORPHA:3008 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnormal epiphysis morphology, Hyp... |
ORPHA:90674 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Familial Isolated Hypoparathyroidism |
|
Nephropathy, Arrhythmia, Cataract, Hypocalcemia |
ORPHA:2238 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia, Hydronephrosis |
OMIM:617093 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Preaxial polydactyly,... |
OMIM:243605 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Hyperbilirubinemia |
OMIM:613812 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hyperbilirubinemia |
OMIM:224120 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Pulmonary venous hypertension, Abnormal blood potas... |
ORPHA:3202 |
Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Rhizomelia, Postaxial hand polydactyly, Renal cyst, Hypertension... |
OMIM:613610 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, A... |
ORPHA:394 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Cystic Echinococcosis |
|
Membranous nephropathy, Renal cyst, Hyperbilirubinemia |
ORPHA:400 |
Glycogen Storage Disease Xii |
|
Hemoglobinuria, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hy... |
OMIM:611881 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Glomerulonephritis, Spider hemangioma, Increased total bilirubin |
ORPHA:2137 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration, Cataract |
OMIM:277700 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... |
ORPHA:99829 |
Caroli Syndrome |
|
Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival icterus, Hematemesis, Melena, Hy... |
ORPHA:480520 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... |
OMIM:603671 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:236670 |
Intrahepatic Cholestasis Of Pregnancy |
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Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Mirizzi Syndrome |
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Dark urine, Tachycardia, Hyperbilirubinemia |
ORPHA:521219 |
Hardikar Syndrome |
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Renal insufficiency, Hydroureter, Portal hypertension, Hematemesis, Pyelonephritis, Pigmentary re... |
OMIM:301068 |
Overhydrated Hereditary Stomatocytosis |
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Hyperbilirubinemia, Pulmonary embolism |
OMIM:185000 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Remnants of the hyaloid vascular system, Broad hallux, Sandal gap, Hypospadia... |
OMIM:300166 |
Spondylocarpotarsal Synostosis Syndrome |
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Carpal synostosis, Abnormality of retinal pigmentation, Scapular winging, Cataract, Short metacar... |
OMIM:272460 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hyperbilirubinemia |
OMIM:301083 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Conjugated hyperbilirubinemia |
OMIM:601847 |
Degcags Syndrome |
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Syndactyly, Tachycardia, Toe syndactyly, Hypospadias, Abnormal renal medulla morphology, Short th... |
OMIM:619488 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
Knobloch Syndrome |
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Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... |
ORPHA:1571 |
Dahlberg-Borer-Newcomer Syndrome |
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Renal insufficiency, Cataract, Hypocalcemia, Nephropathy, Short distal phalanx of finger, Brachyd... |
ORPHA:1563 |
Fabry Disease |
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Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Abno... |
ORPHA:324 |
Caroli Disease |
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Portal hypertension, Conjugated hyperbilirubinemia, Conjunctival icterus, Polycystic kidney dyspl... |
ORPHA:53035 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Tetraamelia-Multiple Malformations Syndrome |
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Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Optic atrophy, Microcornea, Aplasi... |
ORPHA:3301 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Junctional ectopic tachycar... |
OMIM:309801 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Coloboma, Hypoalbuminemia, Syndactyly, Tricuspid regurgitation, Po... |
OMIM:619534 |
Senior-Boichis Syndrome |
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Portal hypertension, Chronic kidney disease, Renal hypoplasia, Stage 5 chronic kidney disease, Hy... |
ORPHA:84081 |
Hereditary Spherocytosis |
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Restrictive cardiomyopathy, Hyperbilirubinemia |
ORPHA:822 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Broad hallux, Single transverse palmar crease, Optic disc coloboma, Unconjugated hyperbilirubinem... |
OMIM:620186 |
Weill-Marchesani Syndrome 2 |
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Short metatarsal, Broad metacarpals, Short metacarpal, Shallow anterior chamber, Astigmatism, Pul... |
OMIM:608328 |
Autosomal Dominant Optic Atrophy And Cataract |
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Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P... |
ORPHA:447 |
Hereditary Elliptocytosis |
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Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Pearson Marrow-Pancreas Syndrome |
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Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype... |
OMIM:557000 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... |
OMIM:300908 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Cataract, Rhizomelia, Hypospadias, Sclerocornea, 2-3 toe syndactyly, Microcornea, Coloboma, Ectop... |
OMIM:615877 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Neurooculorenal Syndrome |
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Iris atrophy, Short hallux, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chr... |
OMIM:620305 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Cataract, Rem... |
OMIM:619539 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Hyper... |
ORPHA:90038 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Multicystic kidney dysplasia, Cataract, Abnormal thumb morphology, Metatarsus adductus, Tibial bo... |
ORPHA:500095 |
Fructose Intolerance, Hereditary |
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Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal... |
OMIM:229600 |
Thrombocytopenia-Absent Radius Syndrome |
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Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
Lissencephaly Due To Lis1 Mutation |
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Neonatal hyperbilirubinemia |
ORPHA:95232 |
Spondyloocular Syndrome |
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Long toe, Retinal detachment, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Long fin... |
OMIM:605822 |
Primary Biliary Cholangitis |
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Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... |
ORPHA:186 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, Anterior syne... |
OMIM:601552 |
Rh-Null, Regulator Type |
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Unconjugated hyperbilirubinemia |
OMIM:268150 |
Pituitary Hormone Deficiency, Combined, 6 |
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Hyperbilirubinemia |
OMIM:613986 |
Elliptocytosis 2 |
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Neonatal hyperbilirubinemia |
OMIM:130600 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Mitchell-Riley Syndrome |
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Hyperbilirubinemia |
OMIM:615710 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... |
OMIM:253280 |
Reynolds Syndrome |
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Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiec... |
OMIM:613471 |
Roberts Syndrome |
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Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... |
ORPHA:3103 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratopathy, ... |
OMIM:118450 |
Congenital Erythropoietic Porphyria |
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Abnormal circulating porphyrin concentration, Red-brown urine, Keratoconjunctivitis, Porphyrinuri... |
ORPHA:79277 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Sterile pyur... |
ORPHA:91500 |
Liver Disease, Severe Congenital |
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Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Increased circul... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iim |
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Vesicovaginal fistula, Hypertension, Ureteropelvic junction obstruction, Rod-cone dystrophy, Neon... |
OMIM:300896 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Portal hypertension, Hyperlipidemia, Abnormal circulating fatty-ac... |
ORPHA:567983 |
Blau Syndrome |
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Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Hypertension, Iritis, Flexion ... |
OMIM:186580 |
Meckel Syndrome |
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Ureteral duplication, Bowing of the long bones, Cataract, Abnormal chorioretinal morphology, Mult... |
ORPHA:564 |
Isolated Biliary Atresia |
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Conjugated hyperbilirubinemia, Dark yellow urine |
ORPHA:30391 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Hypovolemia, Bicarbonate-wasting r... |
ORPHA:47159 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Hyperbilirubinemia |
ORPHA:562639 |
Osteoporosis-Pseudoglioma Syndrome |
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Iris atrophy, Cataract, Metaphyseal widening, Tibial bowing, Retinal calcification, Exudative ret... |
OMIM:259770 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Ectopic kidney, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral ... |
ORPHA:857 |
Neurocardiofaciodigital Syndrome |
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Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Polydactyly, Vesicoureteral reflux |
OMIM:619869 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Portal hypertension, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Unconjugated hyperbilirubinemia |
OMIM:618278 |
Johanson-Blizzard Syndrome |
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Hypospadias, Single transverse palmar crease, Portal hypertension, Increased VLDL cholesterol con... |
OMIM:243800 |
Holoprosencephaly 2 |
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Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |