Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... |
OMIM:232700 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Corneal dystrophy, lisch epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... |
OMIM:619868 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Drusen, Macular scar |
OMIM:615439 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Diarrhea, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, H... |
ORPHA:75234 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia |
ORPHA:171844 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma |
OMIM:604219 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... |
OMIM:306000 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos... |
OMIM:615703 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Hepatic stea... |
OMIM:614480 |
Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri... |
OMIM:612526 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:614819 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Vomiting, Diarrhea, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Constipation, Hypercholesterolemia |
OMIM:301033 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... |
OMIM:605814 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Increased LDL cholesterol concentrati... |
OMIM:278000 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Glaucoma 3, Primary Infantile, B |
|
Primary congenital glaucoma |
OMIM:600975 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation |
OMIM:620315 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... |
OMIM:269400 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... |
OMIM:614702 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast... |
OMIM:613561 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... |
ORPHA:2334 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis |
OMIM:614416 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... |
OMIM:610202 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... |
ORPHA:93323 |
Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... |
OMIM:603471 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... |
OMIM:238600 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 3rd toe, Oligodactyly, Intrauterine growth retardation, Abnormality of the ha... |
ORPHA:521308 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia... |
OMIM:612109 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:120433 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... |
ORPHA:209902 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Muscular dystrophy, Dilated third ventricle, Increased endomysial connective tissue, Lateral vent... |
OMIM:613154 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... |
OMIM:604307 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... |
OMIM:214900 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... |
OMIM:604229 |
Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... |
OMIM:614963 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Hydrops Fetalis |
|
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... |
ORPHA:1041 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... |
OMIM:620548 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... |
OMIM:239850 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... |
ORPHA:90039 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Lateral ventricle dilatation, Limb hypertonia, Partial agenesis of the c... |
OMIM:617296 |
Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia, Chronic constipation |
OMIM:620211 |
Dystonia 30 |
|
Hypothalamic hamartoma, Torticollis |
OMIM:619291 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Microcytic anemia, Pallor, Sp... |
ORPHA:848 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarr... |
ORPHA:247585 |
Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Fatal liver failure ... |
ORPHA:263501 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Pallor, Splenomegaly, Reticulocytosis, Anemia of inadequate production, An... |
OMIM:615631 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Diarrhea, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreonin... |
ORPHA:247598 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract |
OMIM:620312 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
Acute Peripheral Arterial Occlusion |
|
Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Limb muscle weakness, ... |
ORPHA:90064 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:2528 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... |
ORPHA:231226 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Pallor, Abnormal hemoglobin, Splenomegaly, Anemia, Hydrocephalus, Hepat... |
ORPHA:163596 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... |
ORPHA:300751 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in plasma, Hepatomegaly, ... |
ORPHA:79237 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Megal... |
ORPHA:49827 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
ERI1-related disease |
|
Slender metacarpals, Oligodactyly, Intrauterine growth retardation, Clinodactyly of the 5th finge... |
OMIM:608739 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic islet hyperpl... |
ORPHA:276575 |
Isolated Split Hand-Split Foot Malformation |
|
Oligodactyly, Absent hand, Split hand, Finger syndactyly |
ORPHA:2440 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Single transverse palma... |
OMIM:201170 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Agenesis of corpus callosum, Abnormal hypothalamus morphology, Abnormal pituitary ... |
ORPHA:314621 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Hypomimic face |
OMIM:618824 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Interhypothalamic adhesion, Dextrocardia, Agenesis of corpus callosum |
OMIM:618929 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Beta-Thalassemia Major |
|
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... |
ORPHA:231214 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Muscular dystrophy, Decreased thalamic volume, Occipital encephalocele, Ventriculomegaly, Cardiom... |
ORPHA:370959 |
Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... |
ORPHA:3258 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... |
ORPHA:555874 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:619244 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ventricul... |
OMIM:146510 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Palpitations, Pallor, Syncope,... |
ORPHA:276580 |
Morm Syndrome |
|
Cataract |
ORPHA:75858 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Ventriculomegaly, Flexion contracture, Dilated third ventricle, Hydrocephalus |
ORPHA:500055 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Humeroradia... |
OMIM:251230 |
Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... |
OMIM:261740 |
Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia |
OMIM:161200 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Diarr... |
ORPHA:264580 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Arthrogryposis multiplex congenita |
OMIM:619072 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy... |
ORPHA:412 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal guttata, Corneal dystrophy |
OMIM:615523 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Sp... |
ORPHA:79240 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,... |
ORPHA:397715 |
Myopathic Ehlers-Danlos Syndrome |
|
High, narrow palate, Increased variability in muscle fiber diameter, Joint contracture of the han... |
ORPHA:536516 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:129600 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... |
ORPHA:822 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... |
ORPHA:64743 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Contracture of the proximal interphalangea... |
ORPHA:464738 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:619575 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma |
ORPHA:1473 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... |
ORPHA:1414 |
Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... |
OMIM:619938 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Abnormal morphology of ... |
ORPHA:1307 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... |
ORPHA:75564 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Torticollis |
OMIM:613724 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... |
ORPHA:363705 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep... |
OMIM:613812 |
Asparagine Synthetase Deficiency |
|
Ventriculomegaly, Dilated third ventricle, Dilated fourth ventricle, Limb hypertonia, Diaphragmat... |
OMIM:615574 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... |
OMIM:210500 |
X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly, Hyperpigmentation ... |
ORPHA:75563 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Patent foramen ovale, Car... |
OMIM:620371 |
Congenital Generalized Lipodystrophy |
|
Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased... |
ORPHA:528 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... |
OMIM:618775 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hepatic failure, Secundum atrial septal defect, Umbilical hernia, Oligodactyly, Clinodactyly of t... |
OMIM:619758 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Alexander Disease Type I |
|
Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Developmental cataract |
OMIM:600559 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract |
ORPHA:2489 |
Otodental Syndrome |
|
Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma |
ORPHA:2791 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Multiple muscular ventricular septal defects, Polyhydramnios, Limb hypertonia, Atrial septal defe... |
OMIM:620070 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... |
OMIM:620519 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:544488 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Primary Myelofibrosis |
|
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... |
ORPHA:824 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... |
OMIM:602347 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
American Trypanosomiasis |
|
Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, Aganglionic megacol... |
ORPHA:3386 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... |
OMIM:615396 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... |
ORPHA:567548 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Cataract |
OMIM:620425 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Cardiomegaly, Iron deficiency anemia, He... |
ORPHA:99931 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Hypochromic anemia, Generalized limb muscle atrophy, Microcytic anemia, S... |
OMIM:600462 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay, Cardiomyopathy |
OMIM:500007 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... |
OMIM:619313 |
Stickler Syndrome, Type V |
|
Cataract |
OMIM:614284 |
Wagner Vitreoretinopathy |
|
Cataract |
OMIM:143200 |
Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,... |
ORPHA:54595 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... |
ORPHA:231222 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy, Abnorma... |
ORPHA:444013 |
Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion, Myopathy |
ORPHA:254881 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly |
ORPHA:3016 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Pallor, Patent ... |
OMIM:609053 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Pallor, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikiloc... |
OMIM:615234 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... |
ORPHA:507 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Umbilical hernia, Lymphedema, Mild postnatal growth retardation, P... |
OMIM:235510 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of the skin, Pallor, Short stature, Hypopigmentation of hair |
ORPHA:2786 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion, Sma... |
ORPHA:36412 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Congenital Enterovirus Infection |
|
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... |
ORPHA:292 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Abnormal thalamus morphology |
ORPHA:467166 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Abnormality of the... |
ORPHA:2538 |
Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect |
OMIM:608776 |
Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... |
OMIM:615947 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... |
ORPHA:139507 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Erythroi... |
OMIM:266200 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Distal amyotrophy, Lateral ventricle dilatation, Lower limb muscle weakness... |
ORPHA:2822 |
Long-Olsen-Distelmaier Syndrome |
|
Cataract, Microspherophakia, Optic nerve hypoplasia |
OMIM:620609 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
Aicardi-Goutieres Syndrome 9 |
|
Lower limb hypertonia, Ascites, Intrauterine growth retardation, Portal hypertension, Left ventri... |
OMIM:619487 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... |
ORPHA:26793 |
Martsolf Syndrome 2 |
|
Cataract, Developmental cataract |
OMIM:619420 |
Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Choroid plexus cyst, Spina bifida, Partial... |
OMIM:304050 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Ventricular septal defect, Atrial septal defect, Neutropenia, Small ... |
OMIM:105650 |
Kniest Dysplasia |
|
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation |
ORPHA:485 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... |
OMIM:619849 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Prolonged QTc interval, Pericarditis |
ORPHA:231111 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Microphthalmia, Isolated 5 |
|
Cataract, Microphthalmia |
OMIM:611040 |
Dermatitis, Atopic |
|
Conjunctivitis, Keratoconus, Cataract |
OMIM:603165 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... |
OMIM:613839 |
Tetramelic Monodactyly |
|
Hand monodactyly, Split hand, Split foot, Foot monodactyly |
OMIM:187510 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circ... |
ORPHA:33402 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Cardiomyopathy |
OMIM:619046 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Cryptorchidism, Abnormal sperma... |
ORPHA:261529 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventr... |
OMIM:616589 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Camptodactyly of finger, Multiple joint contractures, Abnormality of the diencep... |
ORPHA:2570 |
Rheumatic Fever |
|
Erythema, Epistaxis, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, A... |
ORPHA:3099 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal heart morphology, Abnormal thalamus morphology, Ventricular septal defect |
ORPHA:404440 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Abnormal thalamus morphology, Knee flexion contracture, Ventricular sept... |
ORPHA:435638 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Microphthalmia |
OMIM:601794 |
Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma |
OMIM:212550 |
Leber Congenital Amaurosis 2 |
|
Cataract, Keratoconus |
OMIM:204100 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma |
OMIM:216820 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Evans Syndrome |
|
Epistaxis, Pallor, Autoimmune hemolytic anemia, Petechiae, Syncope, Neutropenia in presence of an... |
ORPHA:1959 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Myocardial necrosis, Facial palsy |
ORPHA:68 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Neutropenia, Absent radius, Leukemia, Patent ductus arteriosus, Annu... |
OMIM:227646 |
Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
Smith-Magenis Syndrome |
|
Constipation, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Pallor, Syncope, Hepatomegaly, Tachycardia |
ORPHA:324575 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Diarr... |
ORPHA:275761 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor, Torticollis |
ORPHA:71518 |
Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... |
OMIM:613195 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Abnormal thalamus morphology |
ORPHA:557003 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Idiopathic Hypereosinophilic Syndrome |
|
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Myocardial eo... |
ORPHA:3260 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Microphthalmia |
ORPHA:363741 |
Primary Intestinal Lymphangiectasia |
|
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema |
ORPHA:90362 |
Mosaic Trisomy 9 |
|
Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, At... |
ORPHA:99776 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Cach Syndrome |
|
T2 hypointense thalamus, Flexion contracture, Arthrogryposis multiplex congenita, Lateral ventric... |
ORPHA:135 |
Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Atrial Standstill |
|
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... |
ORPHA:1344 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal heart morphology, Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... |
ORPHA:124 |
Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion |
ORPHA:79126 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Pediatric Systemic Lupus Erythematosus |
|
Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial effusion, Edema |
ORPHA:93552 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus |
ORPHA:65 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... |
OMIM:615558 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Leu... |
ORPHA:20 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Goiter |
OMIM:617577 |
Lysinuric Protein Intolerance |
|
Diarrhea, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis... |
ORPHA:470 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... |
ORPHA:199241 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia, Hepatomegaly, Abnormal neut... |
ORPHA:3226 |
Alkuraya-Kucinskas Syndrome |
|
Pleural effusion, Camptodactyly, Pericardial effusion, Arthrogryposis multiplex congenita, Edema |
OMIM:617822 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha... |
ORPHA:64753 |
Alpha-Thalassemia |
|
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis |
ORPHA:846 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal thalamus morphology, Lateral ventricle dilatation, Congenital fibrosis of extraocular mu... |
ORPHA:300570 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weaknes... |
ORPHA:254930 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr... |
OMIM:151660 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Proximal femoral ep... |
OMIM:260400 |
Sandhoff Disease, Infantile Form |
|
Mitral valve prolapse, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Pallor, Reticulocytosis, Short stature, Decreased mean corpuscular volume, He... |
OMIM:611590 |
Wagr Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:893 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced haptoglobin level, Elevated circu... |
OMIM:210250 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Dilated fourth ventricle, Ventricular septal defect, Partial agenesis of... |
ORPHA:434179 |
Degcags Syndrome |
|
Toe syndactyly, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia, Genu va... |
OMIM:619488 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... |
ORPHA:300298 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers,... |
ORPHA:70595 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... |
ORPHA:98870 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
Woolly Hair |
|
Cataract, Abnormal pupil morphology |
ORPHA:170 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Leukemia, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Anem... |
OMIM:600901 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Intrauteri... |
OMIM:263650 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract |
ORPHA:1345 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Delayed eruption of teeth, Abnormal pulmonary valve morphology, Sp... |
ORPHA:667 |
Baller-Gerold Syndrome |
|
Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalangy of the hands, Aplasia of m... |
OMIM:218600 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachycardia, Myel... |
ORPHA:98849 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Leukemia, Short thumb, Abnormal heart morphology, Absent radius, Pancytopenia, Anem... |
OMIM:227650 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Joint contracture of the hand, Distal amyotrophy, Foot joint contract... |
ORPHA:456312 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Flexion contracture, Edema, Peri... |
OMIM:212065 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Occipital encephalocele, Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Del... |
ORPHA:77261 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencephaly, Short femur |
OMIM:601357 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Ulcerative colitis, Xanthelasma, Hyperlipidemia, H... |
ORPHA:79259 |
Retinitis Pigmentosa 51 |
|
Pallor, Bone spicule pigmentation of the retina, Polydactyly |
OMIM:613464 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Leukemia, Short thumb, Absent radius, Intrauterine growth retardation, Pancytopenia... |
OMIM:227645 |
Cataract 49 |
|
Posterior cortical cataract |
OMIM:619593 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor |
ORPHA:56425 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor, Perimembranous ventricular septa... |
OMIM:606812 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle |
ORPHA:314404 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Sepsis In Premature Infants |
|
Hypotension, Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Bradycardia... |
ORPHA:90051 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothalamic hamartoma, Ventricular septal defect |
OMIM:619908 |
Panhypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95513 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... |
ORPHA:263455 |
Smith-Magenis Syndrome |
|
Constipation, Gastroesophageal reflux, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... |
OMIM:208085 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
Q Fever |
|
Vasculitis, Abnormal heart valve morphology, Pleural effusion, Myocarditis, Abnormal left ventric... |
ORPHA:781 |
Pallister-Hall Syndrome |
|
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
Adenohypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95512 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Microphthalmia |
OMIM:613730 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Pallor, Splenomeg... |
OMIM:194380 |
Poems Syndrome |
|
Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema |
ORPHA:2905 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... |
ORPHA:331206 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion |
OMIM:618183 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Nausea, Left ventricular hypertrophy, Vomiting, Hypercholesterolemia |
ORPHA:90065 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Ventriculomegaly, Hydrocephalus |
ORPHA:59315 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma |
ORPHA:139471 |
Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... |
ORPHA:101330 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Nance-Horan Syndrome |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:627 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse, Umbilical hernia |
ORPHA:536532 |
Joubert Syndrome 9 |
|
Cataract, Astigmatism |
OMIM:612285 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:277600 |
Alg9-Cdg |
|
Rhizomelia, Hypoplasia of the musculature, Tricuspid regurgitation, Abnormal heart morphology, Ol... |
ORPHA:79328 |
Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydr... |
OMIM:615846 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... |
OMIM:254450 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Hypotension, Decreased methylmalonyl-CoA mutase activity, Decreased methi... |
OMIM:277400 |
Monilethrix |
|
Cataract |
ORPHA:573 |
Japanese Encephalitis |
|
Skeletal muscle atrophy, Abnormal thalamus morphology, Elbow flexion contracture, Focal T2 hyperi... |
ORPHA:79139 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ery... |
OMIM:557000 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Intrauterine growth retardation, Pappenheimer bodies, ... |
OMIM:301310 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic le... |
ORPHA:90033 |
Hoxha-Aliu Syndrome |
|
Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Short distal phalanx of the 5th f... |
OMIM:620662 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Fusion of the left and right thalami, Flexion contracture, Ventricular ... |
OMIM:619306 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Amenorrhea,... |
OMIM:110100 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
Hydranencephaly |
|
Atrophic pituitary gland, Ventriculomegaly, Dysgenesis of the thalamus, Dilatation of the ventric... |
ORPHA:2177 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Pleural effusion, Pericardial effusion, Subconjunctival hemorrhage, Epidural hemorrhage |
ORPHA:464329 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Hypomimic face |
ORPHA:157846 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Multiple joint contractures |
ORPHA:2959 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans... |
OMIM:246450 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Constipation, Hype... |
ORPHA:90674 |
Microphthalmia, Syndromic 5 |
|
Cataract, Microcornea, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Leukemia, Congestive heart... |
ORPHA:33226 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Polydactyly, Pancreatic cysts |
OMIM:616307 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:94080 |
Myhre Syndrome |
|
Aortic valve stenosis, Skeletal muscle hypertrophy, Intrauterine growth retardation, Pericardial ... |
OMIM:139210 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Tachycardia |
ORPHA:90037 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal amyotrophy, Pallor... |
OMIM:617675 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Subcapsular cataract |
ORPHA:414 |
Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Corneal opacity, Apl... |
ORPHA:649 |
Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... |
ORPHA:35858 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Development... |
ORPHA:91495 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Weill-Marchesani Syndrome 2 |
|
Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,... |
OMIM:608328 |
Ifap Syndrome 2 |
|
Cataract, Keratoconjunctivitis sicca, Keratitis |
OMIM:619016 |
Phace Syndrome |
|
Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic... |
ORPHA:42775 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Panhypopituitarism, Fusion of the left and... |
OMIM:610828 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Von Hippel-Lindau Disease |
|
Polycythemia, Cardiomyopathy, Upper limb muscle weakness, Palpitations, Pallor, Distal lower limb... |
ORPHA:892 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy |
ORPHA:1806 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Irida Syndrome |
|
Abnormal intestine morphology, Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... |
ORPHA:348 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Multiple joint contractures, Myopathy, Vent... |
ORPHA:506 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Gaisböck Syndrome |
|
Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Incre... |
ORPHA:90041 |
Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Anterior lenticonus, Corneal erosion |
OMIM:203780 |
Aymé-Gripp Syndrome |
|
Postnatal growth retardation, Congenital diaphragmatic hernia, Camptodactyly, Short stature, Peri... |
ORPHA:1272 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion |
OMIM:614878 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... |
OMIM:619167 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Elbow dislocation, Oligodactyly, In... |
ORPHA:199 |
Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Mild postnatal growth retardation, Per... |
ORPHA:2136 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopen... |
ORPHA:90045 |
Tay-Sachs Disease |
|
Ventriculomegaly, Skeletal muscle atrophy, Hip flexor weakness, Lower limb muscle weakness, Quadr... |
ORPHA:845 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia |
OMIM:619471 |
Alagille Syndrome 1 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p... |
OMIM:118450 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Leukocytosis, Pallor, Thrombocytosis, Hepatomegaly, Hypertension |
ORPHA:134 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria |
OMIM:619649 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... |
ORPHA:73224 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage, Abnormal heart morphology, Hypertrophic cardiomyopathy, Muscle hemorrhage, H... |
ORPHA:464321 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Dysphagia |
OMIM:249310 |
Limb-Mammary Syndrome |
|
Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy... |
ORPHA:69085 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Cataract, Keratitis |
OMIM:612843 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Aromatase Deficiency |
|
Female infertility, Cryptorchidism, Generalized hirsutism, Macroorchidism, postpubertal, Enlarged... |
ORPHA:91 |
Crimean-Congo Hemorrhagic Fever |
|
Retinal hemorrhage, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Ascites, Hemot... |
ORPHA:99827 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... |
ORPHA:1106 |
Esophageal Atresia |
|
Barrett esophagus, Clinodactyly, Tetralogy of Fallot, Intestinal malrotation, Esophagitis, Pallor... |
ORPHA:1199 |
Elliptocytosis 1 |
|
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
Fuchs Heterochromic Iridocyclitis |
|
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl... |
ORPHA:263479 |
Gitelman Syndrome |
|
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment... |
ORPHA:358 |
Naxos Disease |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Abnormal heart morpho... |
OMIM:601214 |
Familial Isolated Hypoparathyroidism |
|
Cataract |
ORPHA:2238 |
Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Clinodactyly, Overlapping toe, Ventricular septal defect, Talipes equinovarus, Ra... |
OMIM:154400 |
Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
Primary Ciliary Dyskinesia |
|
Abnormal sperm motility, Female infertility, Male infertility |
ORPHA:244 |
Meningioma |
|
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Upper limb muscle weakness, Inc... |
ORPHA:2495 |
Aceruloplasminemia |
|
Torticollis, Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Holoprosencephaly, Abnormality of the diencephalon |
ORPHA:2165 |
Plummer-Vinson Syndrome |
|
Pallor, Iron deficiency anemia, Esophageal web, Hypochromic microcytic anemia, Glossitis, Tongue ... |
ORPHA:54028 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Epistaxis, Pleural effusion, Edema |
ORPHA:167 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Nuclear cataract, Cortical cataract |
OMIM:616468 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Delayed puberty, Supra... |
ORPHA:91347 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Leukocytosis, Pallor, Hypertension, Pancreatitis, Thrombocytopenia, Myocardi... |
ORPHA:544482 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Chronic constipation, Decreased HDL cholesterol conce... |
OMIM:176270 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... |
OMIM:300751 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... |
OMIM:613426 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea |
OMIM:615877 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia, Facial hypot... |
ORPHA:2131 |
Traboulsi Syndrome |
|
Cataract, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy, Spherophakia, Anterior syne... |
OMIM:601552 |
Congenital Disorder Of Deglycosylation 2 |
|
Macroglossia, Partial agenesis of the corpus callosum, Hypothalamic hamartoma, Ventriculomegaly |
OMIM:619775 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Microphthalmia, Conj... |
OMIM:278730 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Ascites, Transient ischemic attack, Left ventricular systolic dysfunctio... |
ORPHA:51608 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Chylopericardium |
ORPHA:538 |
Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... |
OMIM:619991 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Female infertility, Lacrim... |
ORPHA:572333 |
Diaphanospondylodysostosis |
|
Intrauterine growth retardation, Talipes equinovarus, Disproportionate short-trunk short stature,... |
OMIM:608022 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, An... |
ORPHA:86839 |
Amyloidosis, Finnish Type |
|
Cataract, Lattice corneal dystrophy |
OMIM:105120 |
Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... |
ORPHA:2879 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:276621 |
Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... |
ORPHA:101096 |
Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Micro... |
OMIM:619539 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala... |
OMIM:619534 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormality of the diencephalon |
ORPHA:2720 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Pallor |
ORPHA:13 |
Bickerstaff Brainstem Encephalitis |
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Facial paralysis, Limb muscle weakness, Weakness of facial musculature, Facial palsy, Abnormal th... |
ORPHA:79138 |
Incontinentia Pigmenti |
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Erythema, Delayed eruption of teeth, Leukocytosis, Pallor, Retinal hemorrhage, Eosinophilia, Abno... |
OMIM:308300 |
Marfan Syndrome |
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Cataract, Microspherophakia, Ectopia lentis, Hypoplasia of the iris, Astigmatism |
OMIM:154700 |
Orofaciodigital Syndrome Vi |
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Hypoplastic left heart, Hypothalamic hamartoma, Occipital meningocele, Agenesis of corpus callosum |
OMIM:277170 |
Retinitis Pigmentosa 75 |
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Pallor, Bone spicule pigmentation of the retina |
OMIM:617023 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Communicating hydrocephalus, Decreased thalamic volume |
ORPHA:168577 |
Cone-Rod Dystrophy 8 |
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Pallor, Abnormality of retinal pigmentation |
OMIM:605549 |
Multiple Endocrine Neoplasia Type 2 |
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Hypertensive crisis, Abnormal tongue morphology, Ganglioneuromatosis, Palpitations, Pallor, Hyper... |
ORPHA:653 |
Non-Functioning Pituitary Adenoma |
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Hypotension, Pallor, Anemia of inadequate production |
ORPHA:91349 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion |
OMIM:181000 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Ectrodactyly, Camptodactyly of finger, Oligodactyly, Abnormality of the hand, Abnormal pelvis bon... |
ORPHA:2273 |
Sheehan Syndrome |
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Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia, Normochromic anemia |
ORPHA:91355 |
Lipodystrophy, Familial Partial, Type 7 |
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Diarrhea, Vomiting, Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Dysphagia |
OMIM:606721 |
Pierson Syndrome |
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Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
Pituitary Apoplexy |
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Hypertension, Hypotension, Pallor, Normochromic anemia |
ORPHA:95613 |
Hereditary Pheochromocytoma-Paraganglioma |
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Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:29072 |
Sponastrime Dysplasia |
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Cataract, Microcoria, Congenital aphakia |
ORPHA:93357 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Hematochezia, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small intestinal polypo... |
ORPHA:329971 |
Orofaciodigital Syndrome I |
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Myelomeningocele, Abnormal heart morphology, Agenesis of corpus callosum, Hypothalamic hamartoma,... |
OMIM:311200 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El... |
OMIM:276820 |
Neuroblastoma |
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Increased circulating lactate dehydrogenase concentration, Anemic pallor, Thrombocytopenia, Anemi... |
ORPHA:635 |
Oculocerebrorenal Syndrome Of Lowe |
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Gastroesophageal reflux, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hyperch... |
ORPHA:534 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Diarrhea, Elevated circulating hepatic transaminase concentration, Oral-pharyngea... |
ORPHA:273 |
Prolactinoma |
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Hypotension, Delayed puberty, Pallor |
ORPHA:2965 |
Tay-Sachs Disease |
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Pallor |
OMIM:272800 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
Microphthalmia, Syndromic 3 |
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Hypothalamic hamartoma, Ventricular septal defect, Anterior pituitary hypoplasia, Agenesis of cor... |
OMIM:206900 |
Orofaciodigital Syndrome Type 6 |
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Abnormal heart morphology, Hypothalamic hamartoma |
ORPHA:2754 |
Childhood Absence Epilepsy |
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Pallor |
ORPHA:64280 |
Autosomal Dominant Optic Atrophy And Cataract |
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Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio... |
ORPHA:67036 |
Lowe Oculocerebrorenal Syndrome |
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Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Co... |
OMIM:309000 |
Yunis-Varon Syndrome |
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Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V... |
OMIM:216340 |
Sarcoidosis |
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Hepatic failure, Hypopigmentation of the skin, Decreased liver function, Parotitis, Leukopenia, P... |
ORPHA:797 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Alopecia, Female infertility, Abnormality of the ovary, Low posterior hairline, Primary amenorrhe... |
ORPHA:99413 |
Mosaic Monosomy X |
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Alopecia, Female infertility, Abnormality of the ovary, Low posterior hairline, Primary amenorrhe... |
ORPHA:99228 |
Monosomy X |
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Alopecia, Female infertility, Abnormality of the ovary, Low posterior hairline, Primary amenorrhe... |
ORPHA:99226 |
Turner Syndrome |
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Alopecia, Female infertility, Abnormality of the ovary, Low posterior hairline, Primary amenorrhe... |
ORPHA:881 |
Focal Dermal Hypoplasia |
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Toe syndactyly, Foot polydactyly, Short metacarpal, Myelomeningocele, Brachydactyly, Postaxial ha... |
OMIM:305600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Muscular dystrophy, Pallor, Hydrocephalus |
OMIM:253280 |
Williams Syndrome |
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Macroglossia, Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Myopathy, Ventr... |
ORPHA:904 |
Pmm2-Cdg |
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Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Angina pectoris, ... |
ORPHA:79318 |
Goodpasture Syndrome |
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Anemia, Pulmonary hemorrhage, Pallor |
OMIM:233450 |