Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester... |
OMIM:600803 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Benign Recurrent Intrahepatic Cholestasis |
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Elevated hepatic transaminase, Anorexia, Jaundice, Acholic stools, Cholestatic liver disease, Cir... |
ORPHA:65682 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis |
OMIM:300752 |
Hyperbiliverdinemia |
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Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
Gcgr-Related Hyperglucagonemia |
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Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... |
ORPHA:438274 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Irritabili... |
ORPHA:848 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Elevated hepatic transaminase, Giant cell hepatitis, Depression, Pigmentary retinopathy, Cholesta... |
ORPHA:79095 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:605479 |
Caroli Disease |
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Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Sple... |
ORPHA:53035 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabet... |
ORPHA:231222 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia |
ORPHA:79278 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hepatic failure, Cholelithiasis |
OMIM:177000 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
Nephronophthisis 19 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Mirizzi Syndrome |
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Elevated hepatic transaminase, Dark urine, Anorexia, Pancreatitis, Jaundice, Cholesterol gallston... |
ORPHA:521219 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Mitchell-Riley Syndrome |
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Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Pancreatic Colipase Deficiency |
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Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia |
ORPHA:309108 |
Glycogen Storage Disease Vii |
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Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... |
OMIM:232800 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy, Dysphagia |
OMIM:160900 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Attention deficit hyperactivity ... |
ORPHA:3166 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Perifoveal ring of hype... |
OMIM:240300 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Hereditary Elliptocytosis |
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Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... |
OMIM:613027 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po... |
OMIM:602347 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Ppoma |
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Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... |
ORPHA:97278 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice... |
OMIM:615512 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Low frustration tolerance, Chol... |
OMIM:300534 |
Retinitis Pigmentosa 89 |
|
Retinal thinning, Micronodular cirrhosis, Hepatosplenomegaly, Hyperautofluorescent retinal lesion... |
OMIM:618955 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn... |
ORPHA:3032 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Bile duct proliferation, ... |
OMIM:612284 |
Cimdag Syndrome |
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Cholelithiasis, Microvesicular hepatic steatosis, Retinal dystrophy, Hepatomegaly |
OMIM:619273 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder, Em... |
ORPHA:512 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... |
ORPHA:97261 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Renal tubular dysfunction, Hepatic failure |
OMIM:614886 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Papilledema, Thrombocytopenia |
OMIM:618775 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Portal hypertension, Retinal telangiectasia, Microcytic anemia, Neph... |
ORPHA:774 |
Distal Duplication 5Q |
|
Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder, Chorioretinal coloboma |
ORPHA:96097 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma... |
OMIM:610688 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... |
ORPHA:3077 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Attention deficit hyperactivi... |
ORPHA:96092 |
Isolated Anencephaly |
|
Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Aggressive behavior, Hepatosplenomegaly, Cholecystitis, Cholelithiasi... |
OMIM:301066 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia |
OMIM:222100 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Malformation of the ... |
OMIM:208540 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Pseudobulbar paralysis, Optic disc pallor |
OMIM:213700 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Cherry red spot of the ma... |
ORPHA:77293 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Hepatic cysts, Pancreatic cysts, S... |
OMIM:616307 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Aggressive behavior, Male urethral meatus stenosis, Cholelithiasis, Hydronephrosis |
ORPHA:464738 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th... |
OMIM:263700 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Renal insufficiency, Polydipsia, Hyperglycemia, Rod-cone... |
OMIM:615986 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Optic neuropathy, Aggressive behavior, Abnormal retinal vascular morphology, O... |
ORPHA:909 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Retinal cotton wool spot, Proteinuria, Nodular regenerative hyperplasia of liv... |
ORPHA:247691 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Decreased liver function... |
OMIM:618268 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas, Hydronephrosis |
ORPHA:210122 |
Senior-Boichis Syndrome |
|
Hepatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepat... |
ORPHA:84081 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne... |
OMIM:614377 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Optic atrophy, Urinary retention, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Hypospadias, Polysplenia |
ORPHA:1335 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Optic atrophy, Depression, Cholecystitis, Neoplasm of the gallbladder, Emot... |
ORPHA:309271 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Retinal arteriolar tortuosity, Cryptorchidism, Splenomegaly, Opt... |
ORPHA:567 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria |
ORPHA:293807 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia |
ORPHA:556955 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, H... |
ORPHA:2072 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestas... |
OMIM:267010 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Decreased response to growth hormone stimulatio... |
ORPHA:273 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Hyperglycemia, Macronodular adrenal hyperplasia, Depression |
OMIM:615954 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, 3-Me... |
OMIM:618329 |
Steinfeld Syndrome |
|
Absent gallbladder, Retinal coloboma |
OMIM:184705 |
Trisomy 8P |
|
Cryptorchidism, Micropenis, Nephrocalcinosis, Aplasia/Hypoplasia of the gallbladder, Annular panc... |
ORPHA:264450 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffici... |
ORPHA:2255 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc... |
ORPHA:2969 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Ureteral duplication, Diabetes mellitus, Biliary atresia, Glycosuria, Hypergl... |
OMIM:600001 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm... |
ORPHA:400 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia, Attention deficit hyperactivity disorder |
ORPHA:565899 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Fasting hypoglycemia, Hyperglycemia, A... |
ORPHA:2298 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, C... |
ORPHA:83617 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Incr... |
ORPHA:100924 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Type I diabetes ... |
OMIM:618500 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Anemia, Micropenis, Hydronephrosis, Thrombocytop... |
ORPHA:163979 |
Digeorge Syndrome |
|
Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Thrombocytopenia, Splenomeg... |
OMIM:188400 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Hydronephrosis, Cryptorchidism |
OMIM:300712 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Anemia, Leukopeni... |
ORPHA:77259 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:618858 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... |
ORPHA:69076 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes |
OMIM:610582 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th... |
ORPHA:2869 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:606176 |
Trisomy 10P |
|
Absent gallbladder, Multiple renal cysts, Dysphagia |
ORPHA:171929 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Abnormal retinal morphology, Urogenital sinus anomaly... |
ORPHA:96176 |
Tetrasomy 9P |
|
Absent gallbladder, Hyperactivity, Abnormal chorioretinal morphology, Cryptorchidism, Jaundice, B... |
ORPHA:3310 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... |
OMIM:208500 |
Williams Syndrome |
|
Hypoplasia of penis, Cardiomegaly, Nephrocalcinosis, Compulsive behaviors, Vesicoureteral reflux,... |
ORPHA:904 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Zttk Syndrome |
|
Absent gallbladder, Polyuria, Unilateral renal agenesis, Optic atrophy, Horseshoe kidney |
OMIM:617140 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Hypospadias, Maturi... |
OMIM:137920 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Micropenis |
OMIM:617925 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abno... |
ORPHA:3376 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Pituitary adenoma, Congenital hypertrophy of retin... |
ORPHA:733 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Abnormality of th... |
ORPHA:887 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
D-Bifunctional Protein Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Renal cyst... |
OMIM:261515 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Optic nerve hypoplasia, Unilateral renal agenesis, Optic atrophy, Horseshoe k... |
ORPHA:500150 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Fucosidosis |
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Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnormalit... |
OMIM:261540 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... |
OMIM:203700 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Abnor... |
ORPHA:436252 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Cranioectodermal Dysplasia 2 |
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Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili... |
OMIM:613610 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated hepatic transaminase, Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Bile... |
OMIM:613658 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353281 |
Proteus Syndrome |
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Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic... |
ORPHA:744 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... |
OMIM:249000 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormality of th... |
ORPHA:818 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,... |
OMIM:619534 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Cryptorchidism, Abnormality of the gallbladder, Optic atrophy, Abdominal situs inver... |
ORPHA:280 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-induc... |
ORPHA:353277 |
Neurofibroma |
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Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |