| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| 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 |
| Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bile acid concent... |
OMIM:619868 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Cryptorchidism, Micropenis, Hypogonadism, Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin |
ORPHA:2924 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Malabsorption |
OMIM:214900 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Acholic stools, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, H... |
OMIM:615710 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Fat malabsorption, Hematochezia, Hyperbilirubinemia |
OMIM:214950 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
| Hijazi-Reis Syndrome |
|
Gastroesophageal reflux, Hyperbilirubinemia |
OMIM:301094 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology |
ORPHA:234 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Increased fecal harder... |
OMIM:618892 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
| Lynch Syndrome 8 |
|
Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color... |
OMIM:613244 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hyperbilirubinemia |
ORPHA:79302 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia, Steato... |
ORPHA:79303 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Acholic stools, Steatorrhea, Fat malabsorption, Hypocholesterolemia |
OMIM:607765 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Hypoalbuminemia, Gastric... |
ORPHA:64743 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, High palate |
OMIM:269920 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Esophageal v... |
OMIM:619662 |
| Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Fat malabsorption |
OMIM:211600 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Bachmann-Bupp Syndrome |
|
Cryptorchidism, High palate, Hyperbilirubinemia |
OMIM:619075 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Acholic stools, Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormality of the male genitalia, Elevated circulating long chain fatty acid concentration, Hype... |
OMIM:614886 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Malabsorption, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bi... |
OMIM:227810 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Rectal prolapse, Elevated circulating creatinine concentrat... |
ORPHA:90038 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... |
OMIM:616860 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
| Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypospadias, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Micropenis, Reduced haptoglobin... |
OMIM:613673 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Ulcerative colitis, Inflammation of the large intestine, Hepatocellu... |
ORPHA:2137 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Neonatal hyperbilirubinemia |
ORPHA:73272 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Hematochezia, Melena, Hyperbili... |
ORPHA:464321 |
| Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
| Distal Xq28 Microduplication Syndrome |
|
High palate, Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... |
ORPHA:14 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Cystic Echinococcosis |
|
Ovarian cyst, Abnormality of the testis size, Hyperbilirubinemia |
ORPHA:400 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
| Graft Versus Host Disease |
|
Recurrent gastroenteritis, Hyperbilirubinemia, Gastrointestinal inflammation |
ORPHA:39812 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Celiac disease, Gastrointestinal inflammation, Hypoalbuminemia, He... |
ORPHA:186 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Esophageal varix, Dysphagia, Hyp... |
OMIM:277900 |
| Caroli Syndrome |
|
Cholangiocarcinoma, Conjugated hyperbilirubinemia, Hematemesis, Esophageal varix, Melena, Hyperbi... |
ORPHA:480520 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Vil... |
ORPHA:567983 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, High palate, Hyperbilirubinemia |
OMIM:606812 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Ulcerative colitis, Hyperbilirubinemia |
ORPHA:562639 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Hyperbilirubinemia, Steatorrhea |
OMIM:557000 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration |
OMIM:614887 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Cleft palate, Hypocalcemia, Hyperbilirubinemia, Micropenis |
ORPHA:163979 |
| Lathosterolosis |
|
Abnormal circulating cholesterol concentration, High palate, Ambiguous genitalia, male, Hyperbili... |
OMIM:607330 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Macroorchidism, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neo... |
ORPHA:90674 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Conjugated hyperbilirubinemia, Cryptorchidism, Elevated circulating phytanic acid co... |
OMIM:614866 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
| Caroli Disease |
|
Conjugated hyperbilirubinemia, Cholangiocarcinoma, Abnormal circulating alpha-fetoprotein concent... |
ORPHA:53035 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Acholic stools, Fat malabsorption |
ORPHA:30391 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
| Degcags Syndrome |
|
Hypospadias, Jejunal atresia, Protruding tongue, Oral-pharyngeal dysphagia, Cryptorchidism, Pylor... |
OMIM:619488 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... |
OMIM:301068 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Intestinal malrotation, Esophageal varix, High palate, Hypoalbuminemia, Hypocalcem... |
OMIM:613658 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Hypospadias, High, narrow palate, Short uvula, High palate, Hyperbilirubinemia, Mi... |
OMIM:619475 |
| Ogden Syndrome |
|
Cryptorchidism, Narrow palate, Hydrocele testis, High palate, Hyperbilirubinemia, Dysphagia, Decr... |
OMIM:300855 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Cryptorchidism, Anteriorly placed anus, Intestinal malrotation |
OMIM:620305 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Chronic gastritis, Hypospadias, Elevated circulating alpha-fetoprotein concentratio... |
OMIM:619991 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Cryptorchidism, Micropenis, Hypospadias, Neonatal hyperbilirubinemia |
ORPHA:163956 |
| Senior-Boichis Syndrome |
|
Esophageal varix, Increased total bilirubin |
ORPHA:84081 |
| Cranioectodermal Dysplasia 2 |
|
Cleft palate, High palate, Hyperbilirubinemia |
OMIM:613610 |
| Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s... |
ORPHA:93932 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Congenital Erythropoietic Porphyria |
|
Increased stool urobilinogen concentration, Abnormal circulating porphyrin concentration, Increas... |
ORPHA:79277 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hypospadias, Increased VLDL cholesterol concentration, Septate vagina, Conju... |
OMIM:243800 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Micropenis, Gastroesophageal reflux, Hyperbilirubinemia |
OMIM:210710 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Hydrocele testis, Gastroesophageal reflux, Unconjugated hyperbilirubinemia, Ankyloglossia, Bifid ... |
OMIM:620186 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Gastroesophageal reflux, Vesicovaginal fistula, High palate, Neonatal hyperbilirubinemia |
OMIM:300896 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Esophageal spasms, Decreased serum iron, Odynophagia, Dysphagia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
| Yellow Fever |
|
Hematemesis, Elevated circulating creatinine concentration, Elevated circulating creatine kinase ... |
ORPHA:99829 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia |
OMIM:618278 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... |
OMIM:137920 |
| Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Hepatic hemangioma, Epididymal cyst |
OMIM:193300 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... |
ORPHA:109 |
| Floating-Harbor Syndrome |
|
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Celiac disease, Gastroesophageal reflux, Epididy... |
ORPHA:2044 |
| Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
