Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Malaria |
|
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Loss of ambulation, Elevated circulating creatine kinase concentration |
OMIM:606768 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Gait disturbance, Elevated circulating creatine kinase concentration |
ORPHA:1878 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Ataxia, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... |
OMIM:603553 |
Hijazi-Reis Syndrome |
|
Gait disturbance, Hyperbilirubinemia |
OMIM:301094 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Saccharopinuria |
|
Hypercystinemia, Hyperammonemia, Gait ataxia, Abnormality of circulating enzyme level, Elevated p... |
ORPHA:3124 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Hyperbilirubinemia |
ORPHA:713 |
Hypermanganesemia With Dystonia 1 |
|
Steppage gait, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbiliru... |
OMIM:613280 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Inabili... |
ORPHA:167 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia |
ORPHA:1667 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration |
ORPHA:79303 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc... |
ORPHA:14 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hyperammonemia, Hyperproli... |
ORPHA:3008 |
Distal Xq28 Microduplication Syndrome |
|
Tip-toe gait, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia |
ORPHA:158048 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia |
OMIM:614886 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Ataxia |
OMIM:608885 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia |
OMIM:613673 |
Hereditary Spherocytosis |
|
Ataxia, Hyperbilirubinemia |
ORPHA:822 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia |
OMIM:613812 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Graft Versus Host Disease |
|
Hyperbilirubinemia |
ORPHA:39812 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop... |
OMIM:277900 |
Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Ataxia |
ORPHA:168577 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Athetosis, Elevated circulating phytanic acid concentration, Incre... |
OMIM:614866 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration |
ORPHA:53035 |
Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... |
OMIM:607330 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia |
ORPHA:464321 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Ataxia, Tip-toe gait, Falls, Hyperbilirubinemia |
OMIM:619475 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Pearson Marrow-Pancreas Syndrome |
|
Hyperbilirubinemia |
OMIM:557000 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia |
OMIM:613471 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia |
ORPHA:30391 |
Ogden Syndrome |
|
Hyperbilirubinemia |
OMIM:300855 |
Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia |
OMIM:613610 |
Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... |
ORPHA:79277 |
Degcags Syndrome |
|
Hyperbilirubinemia |
OMIM:619488 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia |
OMIM:618278 |
Hardikar Syndrome |
|
Hyperbilirubinemia |
OMIM:301068 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:620305 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperbilirubinemia |
OMIM:210710 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:620186 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |