Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Crigler-Najjar Syndrome Type 2 |
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Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Crigler-Najjar Syndrome Type 1 |
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Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Enterokinase Deficiency |
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Hypoproteinemia |
OMIM:226200 |
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 |
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 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
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Conjugated hyperbilirubinemia |
OMIM:237450 |
Malaria |
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Cognitive impairment, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Gastritis, Familial Giant Hypertrophic |
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Hypoproteinemia |
OMIM:137280 |
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 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect, Type II lissencephaly |
OMIM:615041 |
Crigler-Najjar Syndrome, Type I |
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Unconjugated hyperbilirubinemia |
OMIM:218800 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Citrullinemia Type Ii |
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Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T... |
ORPHA:247585 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Hypoproteinemia |
OMIM:221400 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Edinburgh Malformation Syndrome |
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Neonatal hyperbilirubinemia |
OMIM:129850 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Hypoproteinemia |
OMIM:207731 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Rotor Syndrome |
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Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Red Cell Phospholipid Defect With Hemolysis |
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Hyperbilirubinemia |
OMIM:179700 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Lymphangiectasia, Intestinal |
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Neonatal hypoproteinemia |
OMIM:152800 |
Gilbert Syndrome |
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Unconjugated hyperbilirubinemia |
OMIM:143500 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Hypoproteinemia |
ORPHA:1116 |
Nephrotic Syndrome, Type 1 |
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Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Analbuminemia |
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Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Immunodeficiency 43 |
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Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Nephrotic Syndrome, Type 22 |
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Hypoproteinemia |
OMIM:619155 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Lambert Syndrome |
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Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Intention tremor, Hypocholesterolemia |
OMIM:610539 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Pancreatic insufficiency, combined exocrine |
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Hypoproteinemia |
OMIM:260450 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... |
OMIM:603553 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Increased total bilirubin |
OMIM:174050 |
Congenital Disorder Of Glycosylation, Type Ij |
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Tremor, Hypoproteinemia |
OMIM:608093 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder |
OMIM:301033 |
Ménétrier Disease |
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Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Lipoyltransferase 1 Deficiency |
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Hyperglutaminemia, Dystonia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Megaloblastic Anemia, Folate-Responsive |
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Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Cholestasis-Lymphedema Syndrome |
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Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Isolated Polycystic Liver Disease |
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Increased total bilirubin |
ORPHA:2924 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Dengue Fever |
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Hypoproteinemia |
ORPHA:99828 |
Glycogen Storage Disease Vi |
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Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Neonatal hyperbilirubinemia |
ORPHA:3363 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
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Increased serum bile acid concentration, Irritability, Hyperbilirubinemia, Opisthotonus |
OMIM:619685 |
Biliary Atresia, Extrahepatic |
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Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Decreased LDL cholesterol concentration, Elevated c... |
OMIM:618156 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
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 |
Congenital Disorder Of Glycosylation, Type Iip |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Ophthalmoplegia, External, And Myopia |
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Spina bifida |
OMIM:311000 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Primary Intestinal Lymphangiectasia |
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Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Bile Acid Conjugation Defect 1 |
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Conjugated hyperbilirubinemia |
OMIM:619232 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration |
ORPHA:945 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
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Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Verheij Syndrome |
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Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short neck |
OMIM:615583 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Hijazi-Reis Syndrome |
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Hyperbilirubinemia |
OMIM:301094 |
Hypermanganesemia With Dystonia 1 |
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Hypermanganesemia, Tremor, Increased total iron binding capacity, Unconjugated hyperbilirubinemia... |
OMIM:613280 |
Autosomal Dominant Spastic Paraplegia Type 29 |
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Hyperbilirubinemia |
ORPHA:101009 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Harderoporphyria |
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Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Tremor, Hyperbilirubinemia |
ORPHA:713 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... |
ORPHA:101030 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Ataxia-Oculomotor Apraxia 4 |
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Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairment, Dyst... |
OMIM:616267 |
X-Linked Mandibulofacial Dysostosis |
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Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck |
ORPHA:1131 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Omenn Syndrome |
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Hypoproteinemia |
OMIM:603554 |
Peroxisome Biogenesis Disorder 3B |
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Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Spherocytosis, Type 4 |
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Hyperbilirubinemia |
OMIM:612653 |
Liver Failure, Infantile, Transient |
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Irritability, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
Chédiak-Higashi Syndrome |
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Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Dementi... |
ORPHA:167 |
Intrahepatic Cholestasis Of Pregnancy |
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Tremor, Increased serum bile acid concentration, Hyperbilirubinemia, Depression |
ORPHA:69665 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hyperbilirubinemia |
OMIM:301083 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Conjugated hyperbilirubinemia |
OMIM:605479 |
Branchiogenic-Deafness Syndrome |
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Branchial cyst, Branchial fistula |
OMIM:609166 |
Rh-Null, Regulator Type |
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Unconjugated hyperbilirubinemia |
OMIM:268150 |
Isolated Klippel-Feil Syndrome |
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Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... |
ORPHA:2345 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Thoraco-Abdominal Enteric Duplication |
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Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Wildervanck Syndrome |
|
Webbed neck, Meningocele, Low posterior hairline, Short neck |
ORPHA:3456 |
Spherocytosis, Type 2 |
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Hyperbilirubinemia |
OMIM:616649 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Hemihyperplasia, Isolated |
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Myelomeningocele |
OMIM:235000 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr... |
ORPHA:79303 |
Hepatoportal Sclerosis |
|
Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... |
ORPHA:1120 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Bachmann-Bupp Syndrome |
|
Attention deficit hyperactivity disorder, Hyperbilirubinemia |
OMIM:619075 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Congenital Vertical Talus |
|
Myelomeningocele |
ORPHA:178382 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia |
ORPHA:542323 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy |
OMIM:207950 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder |
ORPHA:73272 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Depression |
ORPHA:293939 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia |
OMIM:614886 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Short neck |
ORPHA:66637 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating ... |
ORPHA:90674 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:619991 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Tremor, Hyperammonemia, Hyperproli... |
ORPHA:3008 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dystonia, Tremor, Hand tremor, D... |
OMIM:277900 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Cystic hygroma, Meningocele, Anencephaly |
OMIM:603194 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Tremor, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia, Intention tremor |
OMIM:212065 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... |
ORPHA:2162 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia |
OMIM:613673 |
Triploidy |
|
Polyhydramnios, Short neck, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holop... |
ORPHA:3376 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Limitation of neck motion, Neural tube defect, ... |
ORPHA:268810 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Graft Versus Host Disease |
|
Irritability, Hyperbilirubinemia |
ORPHA:39812 |
Czeizel-Losonci Syndrome |
|
Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bi... |
ORPHA:2437 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Dehydration |
ORPHA:2260 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Opisthotonus |
ORPHA:95232 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Polyhydra... |
ORPHA:99776 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Autoimmune Hepatitis |
|
Depression, Increased total bilirubin |
ORPHA:2137 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Branchial fistula, Truncus arteriosus, Ventricular septal defect |
ORPHA:261330 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, Spina bifida |
ORPHA:1327 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Ventricular septal defect, Palpebral edema, Patent ductus arteriosus, Hydrocep... |
ORPHA:261337 |
Alg3-Cdg |
|
Neural tube defect, Cardiomyopathy |
ORPHA:79321 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Short neck, Spina bifida, Edema, Lissencephaly |
OMIM:616038 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Short neck, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida occulta |
ORPHA:2311 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453504 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:352665 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Osteopetrosis, Autosomal Recessive 5 |
|
Irritability, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia |
ORPHA:309246 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Short neck, Patent ductus arteriosus, Hydroceph... |
OMIM:130720 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele |
ORPHA:60015 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect |
OMIM:614424 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... |
ORPHA:2211 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Iniencephaly |
|
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... |
ORPHA:63259 |
Amish Lethal Microcephaly |
|
Lissencephaly, Spina bifida |
ORPHA:99742 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus |
ORPHA:861 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia |
ORPHA:2789 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Webbed neck, Hydranencephaly |
ORPHA:1393 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Spina bifida o... |
OMIM:613686 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... |
ORPHA:845 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... |
ORPHA:90038 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Short attention span, Torticollis, Isometric tremor, Head titubation, Depression, Irritability, D... |
OMIM:619475 |
Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... |
OMIM:607330 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Short neck, Hydrocephalus, Webbed neck, Umbilical hernia, Broad neck, Oligohydramnios |
OMIM:613776 |
Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
Dubowitz Syndrome |
|
Short attention span, Hypocholesterolemia |
OMIM:223370 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Short neck, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial septal defect, Oc... |
OMIM:616546 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Athetosis, Elevated circulating phytanic acid concentration, Incre... |
OMIM:614866 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Atrioventricular canal defect, Patent duct... |
ORPHA:508488 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration |
ORPHA:53035 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Irritability, Unconjugated hyperbilirubinemia, Dystonia |
OMIM:618278 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atr... |
OMIM:306955 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Polyhydramnios, Pachygyria, Abnormality of neuronal mig... |
ORPHA:2671 |
Neu-Laxova Syndrome 1 |
|
Broad neck, Ventricular septal defect, Spina bifida, Polyhydramnios, Short neck, Patent ductus ar... |
OMIM:256520 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia |
ORPHA:464321 |
Pearson Marrow-Pancreas Syndrome |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:557000 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Senior-Boichis Syndrome |
|
Attention deficit hyperactivity disorder, Increased total bilirubin |
ORPHA:84081 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema |
ORPHA:2874 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Abnormality of neuronal migrati... |
ORPHA:991 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Xanthelasma |
ORPHA:30391 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Depression |
OMIM:620114 |
Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Natal tooth, Polyhydramnios, Atrial septal defect, Patent foramen ovale, Right ve... |
OMIM:620186 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Focal Dermal Hypoplasia |
|
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... |
ORPHA:2092 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response |
OMIM:616881 |
Ogden Syndrome |
|
Irritability, Torticollis, Hyperbilirubinemia |
OMIM:300855 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Webbed neck, Atrial sept... |
ORPHA:3380 |
Trisomy 20P |
|
Umbilical hernia, Low posterior hairline, Spina bifida, Short neck |
ORPHA:261318 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Exaggerated startle response, Short attention span |
OMIM:617864 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Polyhydramnios, Spina bifida |
ORPHA:3412 |
Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Torticollis, Spina bifida |
OMIM:619480 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Polymicrogyria |
OMIM:601707 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia |
OMIM:613610 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia |
OMIM:270400 |
Hardikar Syndrome |
|
Irritability, Hyperbilirubinemia |
OMIM:301068 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Short neck, Tetralogy of Fallot, ... |
ORPHA:508498 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Periventricular nodular heterotopia, Polymicrogyria, Hypoplastic left heart |
OMIM:277170 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... |
OMIM:164210 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Spina bifida, Edema of the dorsum of hand... |
OMIM:274000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Decreased circulating cortisol level |
OMIM:620305 |
Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... |
ORPHA:79277 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Phocomelia, Schinzel Type |
|
Meningocele, Hydrops fetalis, Short neck |
ORPHA:2879 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Redundant neck skin, Occipital encephalocele, Meningocele |
ORPHA:397715 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... |
OMIM:192350 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Polyhydramnios, Sho... |
ORPHA:567 |
Degcags Syndrome |
|
Hyperbilirubinemia |
OMIM:619488 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperbilirubinemia, Progressive neurologic deterioration |
OMIM:210710 |
Lathosterolosis |
|
Meningocele |
ORPHA:46059 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Jacobsen Syndrome |
|
Ventricular septal defect, Spina bifida, Short neck, Hypoplastic left heart, Webbed neck, Aortic ... |
ORPHA:2308 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele, Spina bifida occulta, P... |
OMIM:267750 |
Fanconi Anemia |
|
Spina bifida, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac septum morphology, Abnorm... |
ORPHA:84 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Branchiooculofacial Syndrome |
|
Branchial anomaly, Low posterior hairline, Short neck |
OMIM:113620 |
Aicardi Syndrome |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria, Spina bifida |
OMIM:304050 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Spina bifida |
OMIM:234100 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Polyhydramnios, Bilateral polymicrogyria |
OMIM:613406 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Neurofibromatosis, Type I |
|
Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Split Cord Malformation |
|
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... |
ORPHA:573278 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Spina bifida, Polyhydramnios, Patent ductus arteriosus, Mitral valve p... |
OMIM:180849 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
Campomelic Dysplasia |
|
Polyhydramnios, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism |
OMIM:114290 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment |
OMIM:617527 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Arima Syndrome |
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Gray matter heterotopia, Occipital meningocele |
OMIM:243910 |
Marfan Syndrome |
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Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
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Exaggerated startle response, Dystonia |
ORPHA:521426 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Semilobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Hydrocephalus, Abnormal heart morphology |
ORPHA:93924 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Short neck, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Irritability, Exaggerated startle response |
OMIM:618367 |
Johanson-Blizzard Syndrome |
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Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele, Broad neck, Short neck |
OMIM:276820 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:619522 |