Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Cataract, Hyperbilirubinemia |
OMIM:618660 |
Galactosemia Iv |
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Cataract, Hypergalactosemia |
OMIM:618881 |
Crigler-Najjar Syndrome Type 2 |
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Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Hypoalphalipoproteinemia, Primary, 2 |
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Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Galactosemia Ii |
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Cataract, Hypergalactosemia |
OMIM:230200 |
Hereditary Hyperferritinemia-Cataract Syndrome |
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Cataract |
ORPHA:163 |
Cataract 29 |
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Cataract |
OMIM:115800 |
Cataract 35 |
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Cataract |
OMIM:609376 |
Cataract 36 |
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Cataract |
OMIM:613887 |
Hypertrophic Neuropathy And Cataract |
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Cataract |
OMIM:239900 |
Jaundice, Familial Obstructive, Of Infancy |
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Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
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Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
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Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
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Unconjugated hyperbilirubinemia |
OMIM:606785 |
Cataract And Congenital Ichthyosis |
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Cataract |
OMIM:212400 |
Glutathione Peroxidase Deficiency |
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Neonatal hyperbilirubinemia |
OMIM:614164 |
Hypercholanemia, Familial, 2 |
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Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Rotor Syndrome |
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Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia |
ORPHA:3111 |
Hyperbilirubinemia, Rotor Type |
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Conjugated hyperbilirubinemia |
OMIM:237450 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
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Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
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Unconjugated hyperbilirubinemia |
OMIM:218800 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:616834 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
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Cataract |
ORPHA:1397 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
N Syndrome |
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Cryptorchidism, Abnormality of chromosome stability, Neoplasm, Leukemia |
OMIM:310465 |
Corneal Dystrophy, Groenouw Type I |
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Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
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Cataract |
ORPHA:73245 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Edinburgh Malformation Syndrome |
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Neonatal hyperbilirubinemia |
OMIM:129850 |
Crigler-Najjar Syndrome Type 1 |
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Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Aldh18A1-Related De Barsy Syndrome |
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Cataract |
ORPHA:35664 |
Red Cell Phospholipid Defect With Hemolysis |
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Hyperbilirubinemia |
OMIM:179700 |
Cataract 12, Multiple Types |
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Progressive cataract, Developmental cataract |
OMIM:611597 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
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Cataract |
OMIM:300719 |
Trichomegaly |
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Cataract |
OMIM:190330 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Gilbert Syndrome |
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Unconjugated hyperbilirubinemia |
OMIM:143500 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Hyperferritinemia With Or Without Cataract |
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Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Malaria |
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Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
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Cataract |
OMIM:274205 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
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Cataract |
ORPHA:2253 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
X-Linked Retinoschisis |
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Cataract |
ORPHA:792 |
Mosaic Variegated Aneuploidy Syndrome 4 |
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Abnormality of chromosome stability |
OMIM:620153 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Cataract, Elevated circulating creatine kinase concentration |
OMIM:609115 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Renal Failure, Progressive, With Hypertension |
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Elevated circulating creatinine concentration |
OMIM:161900 |
Hijazi-Reis Syndrome |
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Astigmatism, Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
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Cataract, Developmental cataract |
OMIM:613076 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Microphthalmia, Isolated, With Cataract 1 |
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Cataract |
OMIM:156850 |
Fanconi Anemia, Complementation Group G |
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Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Increased total bilirubin |
OMIM:174050 |
Spastic Paraparesis And Deafness |
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Cataract |
OMIM:312910 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Genetic Hyperferritinemia Without Iron Overload |
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Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Cataract |
OMIM:617133 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Lipoyltransferase 1 Deficiency |
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Hyperglutaminemia, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased total bilirubin |
OMIM:616299 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Chorea, Remitting, With Nystagmus And Cataract |
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Cataract |
OMIM:601372 |
Fanconi Anemia, Complementation Group D1 |
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Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents, T-cell acute lymphob... |
OMIM:605724 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Cataract |
OMIM:619813 |
Cholestasis-Lymphedema Syndrome |
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Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Microphthalmia, Isolated, With Coloboma 3 |
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Cataract, Iris coloboma |
OMIM:610092 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
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Increased susceptibility to spontaneous sister chromatid exchange, Gastroesophageal reflux |
OMIM:618097 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
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Aminoaciduria, Cataract |
ORPHA:2278 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Abnormality of chromosome stability |
OMIM:600546 |
Biliary Atresia, Extrahepatic |
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Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Cataract 11, Multiple Types |
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Cataract, Developmental cataract |
OMIM:610623 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Neonatal hyperbilirubinemia |
ORPHA:3363 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Cataract |
OMIM:254000 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
Fanconi Anemia, Complementation Group O |
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Cryptorchidism, Rectal atresia, Chromosome breakage, Anal atresia |
OMIM:613390 |
Cardiomyopathy, Dilated, 1Ii |
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Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Iris Pigment Layer, Cleavage Of |
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Cataract |
OMIM:147610 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Galactose Mutarotase Deficiency |
|
Cataract, Hypergalactosemia |
ORPHA:570422 |
Bile Acid Conjugation Defect 1 |
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Conjugated hyperbilirubinemia |
OMIM:619232 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Cataract 50 With Or Without Glaucoma |
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Cataract, Persistent pupillary membrane |
OMIM:620253 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia, Developmental cataract |
OMIM:618810 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615352 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Cataract 47 |
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Microcornea, Cataract |
OMIM:612018 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hyperthreoninuria, Cataract, Hyperthreoninemia |
OMIM:204000 |
Ataxia-Telangiectasia |
|
Neoplasm, Abnormality of chromosome stability, Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Immunodeficiency 54 |
|
Chromosome breakage, Lymphoproliferative disorder, Adrenocorticotropic hormone excess |
OMIM:609981 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Increased phytanic acid:pristanic acid ratio, Cataract, Elevated circulating phytanic acid concen... |
OMIM:614307 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Chromosome breakage |
OMIM:615272 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Breast carcinoma, Narrow palate, Ovarian neoplasm, Ovarian carcinoma |
OMIM:617883 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Cataract |
ORPHA:79238 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria, Cataract, Subcapsular cataract |
ORPHA:414 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Elevated circulating creatinine concentration |
OMIM:614376 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr... |
ORPHA:79303 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Gastroesophageal reflux |
ORPHA:908 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Lig4 Syndrome |
|
Abnormality of chromosome stability, Malabsorption, Cryptorchidism, Lymphoma, Acute leukemia |
ORPHA:99812 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Posterior embryotoxon, Increased circulating very long-chain fatty... |
OMIM:614887 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Nuclear cataract, Cataract, Hyperkalemia |
OMIM:608885 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Elevated circulating creatine kinase concentration, Decreased plasma free carnitine, El... |
OMIM:608836 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Galactokinase Deficiency |
|
Cataract, Increased level of galactitol in plasma, Nuclear cataract, Hypergalactosemia, Hyperchol... |
ORPHA:79237 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... |
ORPHA:85327 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Icf Syndrome |
|
Macroglossia, Abnormality of chromosome stability, Malabsorption, Protruding tongue |
ORPHA:2268 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Chromoso... |
OMIM:620133 |
Galactosemia I |
|
Cataract, Increased level of galactitol in plasma, Aminoaciduria, Hypergalactosemia, Increased le... |
OMIM:230400 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Esophageal atresia, Patent ductus arteriosus, Tracheoesophag... |
OMIM:300514 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cataract |
OMIM:606069 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Ke... |
ORPHA:14 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increa... |
OMIM:227810 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia |
ORPHA:31150 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia |
OMIM:614886 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Astigmatism, Hypotriglycerid... |
OMIM:618885 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... |
OMIM:223900 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Cataract, Zonular cataract |
ORPHA:168577 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Aminoaciduria |
OMIM:613404 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Elevated circulating phytanic acid concentration |
OMIM:614879 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Hypoalbuminemia |
OMIM:618805 |
Lathosterolosis |
|
Cataract, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Opacification of th... |
OMIM:607330 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Generalized aminoaciduria,... |
OMIM:251880 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents, Anal atresia |
OMIM:617244 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Squamous cell... |
OMIM:210900 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno... |
ORPHA:411634 |
Familial Isolated Hypoparathyroidism |
|
Cataract, Hypocalcemia |
ORPHA:2238 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma |
OMIM:613951 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Kayser-Fleischer ring, Aminoacid... |
OMIM:277900 |
Kaufman Oculocerebrofacial Syndrome |
|
Microcornea, Astigmatism, Hypocholesterolemia |
OMIM:244450 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, An... |
ORPHA:647 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia |
OMIM:613673 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Esophageal atresia, Chromosomal breakage induced by crosslinking agents, Tra... |
OMIM:614083 |
Papillorenal Syndrome |
|
Cataract, Elevated circulating creatinine concentration, Lens luxation |
OMIM:120330 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancreatic steatosis, Cryptorchidism, Hyperechogenic... |
OMIM:617052 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:603467 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Aminoaciduria |
OMIM:208085 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Mydriasis |
OMIM:259720 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Fumarase Deficiency |
|
Conjunctival icterus, Aminoaciduria, Hyperbilirubinemia |
OMIM:606812 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid con... |
OMIM:614866 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Megalocornea, Iris coloboma, Hypocholesterolemia |
OMIM:223370 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Graft Versus Host Disease |
|
Hyperbilirubinemia |
ORPHA:39812 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Cadds |
|
Cataract, Increased circulating very long-chain fatty acid concentration |
ORPHA:369942 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Leukemia... |
OMIM:227646 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:600901 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Chromosomal breakage induced by crosslinki... |
OMIM:609053 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:227650 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Cataract, Elevated circulating creatine kinase concentration |
ORPHA:370997 |
Pearson Marrow-Pancreas Syndrome |
|
Punctate keratitis, Hyperbilirubinemia, Steatorrhea |
OMIM:557000 |
Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia |
ORPHA:480520 |
Fanconi Anemia |
|
Meckel diverticulum, Abnormality of chromosome stability, Aganglionic megacolon, Myelodysplasia, ... |
ORPHA:84 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Abnormal circulating alpha-fetoprotein conce... |
ORPHA:53035 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:227645 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Developmental cataract |
ORPHA:163956 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability, Aganglionic megacolon, Malabsorption |
ORPHA:175 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Oral leukoplakia |
OMIM:268130 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia |
ORPHA:464321 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Juvenile cataract, Cataract, Iris coloboma, Hyperbilirubinemia |
OMIM:619475 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... |
ORPHA:2495 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Xanthelasma |
ORPHA:30391 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Iris atrophy, Decreased circulating cortisol level |
OMIM:620305 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... |
ORPHA:139411 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholester... |
OMIM:270400 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Congenital Erythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Keratoconjunctivitis, Increased erythrocyte protopo... |
ORPHA:79277 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Cataract, Elevated circulating C-reactive protein concentration, Anterior chamber flare, Elevated... |
ORPHA:91500 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Ogden Syndrome |
|
Hyperbilirubinemia |
OMIM:300855 |
Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia |
OMIM:613610 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Conjunctival icterus, Unconjugated hyperbilirubinemia, Increased blood urea... |
ORPHA:447 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Iris coloboma, Unconjugated hyperbilirubinemia |
OMIM:620186 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia |
OMIM:618278 |
Degcags Syndrome |
|
Hyperbilirubinemia |
OMIM:619488 |
Hardikar Syndrome |
|
Hyperbilirubinemia |
OMIM:301068 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperbilirubinemia |
OMIM:210710 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Lymphoma, Anal atresia |
ORPHA:1572 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Hypocalcemia, Increased VLDL cholesterol con... |
OMIM:243800 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Intestinal pseudo-obstruction |
OMIM:616201 |