Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Adamantinoma |
|
Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Osteopenia |
OMIM:617343 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Osteoporosis, Gout, Impaired glucose tolerance, Hypercholest... |
OMIM:610947 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Blue Diaper Syndrome |
|
Hypercalcemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Inc... |
ORPHA:94086 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Osteopenia, Infantile hypercalcemia, Generali... |
ORPHA:99879 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... |
OMIM:612526 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly |
OMIM:605911 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Bone cyst |
ORPHA:2668 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Calvarial osteosclerosis, Osteopenia, Metacarpal periosteal thickening, Hyperphosp... |
OMIM:617994 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hypophosphatasia |
|
Hypercalcemia, Recurrent fractures, Craniosynostosis, Failure to thrive in infancy |
ORPHA:436 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... |
OMIM:210500 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... |
OMIM:608600 |
Infantile Myofibromatosis |
|
Hypercalcemia, Bone cyst, Chondrocalcinosis, Limitation of joint mobility, Osteolysis |
ORPHA:2591 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:615158 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus |
OMIM:601410 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
ORPHA:79301 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Cholestasis, Hepatic failure, Abnormal mitochondrial morphology, Elevated hepatic t... |
OMIM:618528 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... |
OMIM:602347 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:306000 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia, Osteopenia |
OMIM:619073 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice |
ORPHA:60 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Osteomalacia, Multiple lipomas |
OMIM:600740 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619232 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:613978 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypophosphatasia, Infantile |
|
Decreased calvarial ossification, Hypercalcemia, Failure to thrive, Increased susceptibility to f... |
OMIM:241500 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... |
ORPHA:99886 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia |
OMIM:615883 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... |
ORPHA:405 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Splenomegaly, Hepatic failure, Elevated hepatic ... |
OMIM:616278 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... |
ORPHA:69663 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly |
OMIM:606445 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
OMIM:214900 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Hypophosphatemia, Abnormal bone structure, Osteomalacia, Coarse metaphyseal trabecular... |
ORPHA:93160 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Hypophosphatemia, Abnor... |
ORPHA:249 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... |
OMIM:301045 |
Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:147630 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly |
OMIM:607906 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cholestasis |
ORPHA:570422 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hip contracture, Hypophosphatemia, Knee flexion contracture, Osteopenia, Pathologi... |
OMIM:156400 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:69077 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... |
OMIM:618858 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture |
OMIM:618856 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Late-Onset Isolated Acth Deficiency |
|
Hypercalcemia, Hyponatremia, Hypoglycemia, Generalized bone demineralization, Failure to thrive, ... |
ORPHA:199299 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:237800 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepat... |
OMIM:613812 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice |
OMIM:605479 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas |
OMIM:145981 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... |
ORPHA:131 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Weight loss, Osteopenia |
ORPHA:97289 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial... |
ORPHA:93324 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Enamel hypoplasia, Hypocalcemia |
ORPHA:557003 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... |
OMIM:214950 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Increased blood urea nitrogen... |
ORPHA:251004 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Osteopenia |
OMIM:615363 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Infantile hypercalcemia |
OMIM:143880 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... |
OMIM:606176 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... |
OMIM:613070 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice |
OMIM:618549 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous adipose tissue i... |
OMIM:604367 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... |
OMIM:616828 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Ascites, Jaundice |
ORPHA:890 |
Erythrocytosis, Familial, 8 |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:222800 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, Splenomegaly |
OMIM:608971 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia |
ORPHA:35710 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly |
OMIM:616719 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... |
ORPHA:94089 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Hypophosphatemic Rickets |
|
Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Failure to thrive, Hyperostosis, Hypophos... |
ORPHA:437 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Hypophosphatemia, Hypocalcemia, Rickets |
ORPHA:89937 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Hypocalcemia, Pathologic fracture |
OMIM:179800 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis |
OMIM:243300 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... |
OMIM:248370 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... |
ORPHA:53 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Small for gestational age, Elbow flexion contracture, Hypocalcemia |
OMIM:618440 |
Hyperbiliverdinemia |
|
Decreased liver function, Cholelithiasis, Cholestasis |
OMIM:614156 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Splenomegaly, Cirrhosis, Neonatal choles... |
ORPHA:1414 |
Addison Disease |
|
Hyperkalemia, Hyponatremia, Hypercalcemia, Hypoglycemia, Generalized bone demineralization, Failu... |
ORPHA:85138 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:235700 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Calcinosis, Failure to thrive, Hypophosphatemia, Recurrent fractures |
OMIM:239200 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Hypocalcemic seizures, Rickets, Failure to thrive, Increased susceptibility to ... |
ORPHA:289157 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... |
OMIM:619662 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice |
ORPHA:75234 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... |
OMIM:241520 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... |
OMIM:608612 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hyperph... |
ORPHA:36913 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:266200 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Cholestasis, Jaundice |
OMIM:614887 |
Dubin-Johnson Syndrome |
|
Abnormality of the liver, Hepatomegaly, Biliary tract abnormality, Jaundice |
ORPHA:234 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Mastocytosis |
|
Hypercalcemia, Recurrent fractures, Osteoporosis |
ORPHA:98292 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:369 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Path... |
OMIM:259700 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly |
OMIM:614870 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... |
OMIM:607765 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Parathyroid Carcinoma |
|
Hypercalcemia, Chondrocalcinosis, Weight loss, Osteoporosis, Hypophosphatemia, Infantile hypercal... |
ORPHA:143 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Failure to thrive, Weight loss, Hyperuri... |
ORPHA:95409 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostag... |
OMIM:601678 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Oste... |
ORPHA:29073 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly |
OMIM:607685 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... |
OMIM:235555 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c |
OMIM:610582 |
Klatskin Tumor |
|
Hepatomegaly, Extrahepatic cholestasis, Cholangiocarcinoma, Jaundice |
ORPHA:99978 |
Monosomy 13Q34 |
|
Obesity, Infantile hypercalcemia, Insulin resistance |
ORPHA:96168 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... |
ORPHA:2457 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Chondrocalcinosis, Osteoporosis, Hypophosphatemia, Infantile hypercalcemia, Lipoma |
ORPHA:99880 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hepatomegaly, Splenomegaly |
OMIM:615234 |
Refractory Celiac Disease |
|
Hypoproteinemia, Weight loss, Osteoporosis, Hypophosphatemia, Hypocalcemia, Hypomagnesemia, Hypoa... |
ORPHA:398063 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly |
OMIM:603902 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Hypoglycemia, Subcutaneous lipoma |
OMIM:131100 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... |
OMIM:262190 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia |
OMIM:601005 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia |
OMIM:619658 |
Somatostatinoma |
|
Hepatomegaly, Ascites, Gallbladder dysfunction, Neoplasm of the pancreas, Extrahepatic cholestasi... |
ORPHA:97283 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly |
OMIM:133180 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Craniosynostosis, Osteopenia, Joint hypermobility, Hypertriglyceridemia, Obesity |
ORPHA:369837 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly, Cirrhosis, Hepatosplenomegaly, E... |
OMIM:616860 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia |
OMIM:244460 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly |
OMIM:602390 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... |
OMIM:618641 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Exocrine pancreatic insufficiency |
ORPHA:586 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Vipoma |
|
Hypercalcemia, Hypokalemia, Weight loss, Subcutaneous lipoma, Diabetes mellitus |
ORPHA:97282 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Type II diabetes mellitus, Hypoglycemia, Hypokalemia, Weight loss, H... |
ORPHA:88673 |
Glycogen Storage Disease Xii |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:611881 |
Mody |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... |
ORPHA:552 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelithiasis, Splenom... |
ORPHA:53035 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Weight loss, Lipoma, Increased glucagon level, Multiple lipomas |
ORPHA:913 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... |
OMIM:151660 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly |
OMIM:615285 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:276621 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis |
ORPHA:33402 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss, Arthritis, Osteomyelitis, Hypocalcemia, Cellulitis |
ORPHA:47 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis |
OMIM:607361 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly |
OMIM:613673 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly |
OMIM:618852 |
Celiac Disease, Susceptibility To, 1 |
|
Rickets, Failure to thrive, Weight loss, Osteoporosis, Enamel hypoplasia, Type I diabetes mellitu... |
OMIM:212750 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Biliary tract obstruction, Biliary tract neoplasm, Extrahepatic cholestasis, Cholecystit... |
ORPHA:100086 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Hypercalcemia |
ORPHA:476126 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites |
OMIM:619433 |
Caroli Disease, Isolated |
|
Hepatomegaly, Cholangitis, Portal hypertension, Liver abscess |
OMIM:600643 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
Glucagonoma |
|
Hypercalcemia, Weight loss, Diabetes mellitus, Subcutaneous lipoma |
ORPHA:97280 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Kenny-Caffey Syndrome, Type 2 |
|
Small for gestational age, Thickened cortex of long bones, Increased bone mineral density, Hypoca... |
OMIM:127000 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Rickets, Failure to thrive, Impaired glucose tolerance, Hypophosphatemia, G... |
ORPHA:2088 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Macrovesicular hep... |
OMIM:256810 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Subcutaneous lipoma, Incr... |
ORPHA:276152 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Splenomegaly, Cirrhosis, Hepatic ... |
OMIM:278000 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Hypocalcemia |
OMIM:618476 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Osteoporosis, Abdominal obesity, Increased body weight |
OMIM:615954 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Hypophosphatemia, Patholog... |
ORPHA:352540 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Hypocalcemia |
ORPHA:1438 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Glycosuria, Small for gestational age, Type I diabetes mellitus |
OMIM:618857 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Propionic Acidemia |
|
Hepatomegaly |
ORPHA:35 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:29072 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Osteoporosis, Enamel hypoplasia, Obesity, Hyperphosphatemia |
OMIM:612462 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circulating creati... |
ORPHA:26793 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly |
OMIM:615438 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypotriglyce... |
ORPHA:2298 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:615631 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatic ... |
OMIM:618805 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... |
ORPHA:79303 |
Gracile Bone Dysplasia |
|
Failure to thrive, Decreased skull ossification, Hypocalcemia |
OMIM:602361 |
Short Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... |
OMIM:269880 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Ectopic ossification, Enamel hypoplasia, ... |
ORPHA:79444 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Azoospermia, Cardiomegaly, Splenomegaly, Cirrhos... |
OMIM:235200 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:602579 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... |
ORPHA:905 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase |
OMIM:600649 |
Ppoma |
|
Hypercalcemia, Weight loss, Subcutaneous lipoma |
ORPHA:97278 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice |
OMIM:194380 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney |
OMIM:615415 |
Harderoporphyria |
|
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly |
OMIM:618892 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly |
ORPHA:848 |
Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis, Hyperbilirubinemia, Hypocalcemia |
OMIM:259720 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Cachexia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Osteoporosis, Enamel hypoplasia, Obesity, Hyperphosphatemia |
OMIM:103580 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Hyperglycemia, Weight loss, Osteoporosis, Arthritis, Elevated tr... |
ORPHA:465508 |
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex |
|
Hepatomegaly, Sclerosing cholangitis, Pancreatitis, Jaundice |
OMIM:260480 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Ectopic ossification, Reduced bone minera... |
ORPHA:79443 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly |
OMIM:615085 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Hypoglycemia, Unconjugated hyperbilirubinemia, Rickets, Small for gestational a... |
OMIM:613658 |
Cholera |
|
Hyponatremia, Hypoglycemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration |
ORPHA:173 |
Grfoma |
|
Hypercalcemia, Weight loss, Subcutaneous lipoma |
ORPHA:97261 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Multiple lipomas, Increased susceptibility to fractures, Weight loss, Reduced bone... |
ORPHA:652 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Reduced subcutaneous adipose tissue, Joint laxity |
ORPHA:653 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... |
OMIM:614582 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Williams-Beuren Syndrome |
|
Hypercalcemia, Failure to thrive in infancy, Radioulnar synostosis, Glucose intolerance, Osteopor... |
OMIM:194050 |
Pancreatic And Cerebellar Agenesis |
|
Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Diabetes mel... |
OMIM:609069 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Intrahepatic Cholestasis Of Pregnancy |
|
Ascites, Abnormality of the pancreas, Cholecystitis, Elevated hepatic transaminase, Jaundice |
ORPHA:69665 |
Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Hypokalemia, Insulin resistance,... |
ORPHA:358 |
Williams Syndrome |
|
Hypercalcemia, Failure to thrive in infancy, Type II diabetes mellitus, Abnormal circulating lipi... |
ORPHA:904 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia |
ORPHA:746 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Small for gestational age, Hypocalcemia |
OMIM:607143 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... |
ORPHA:480520 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density |
ORPHA:428 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... |
ORPHA:411634 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... |
ORPHA:31824 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Splenomegaly |
OMIM:618107 |
Mpi-Cdg |
|
Decreased liver function, Hepatomegaly, Portal hypertension, Hepatic fibrosis |
ORPHA:79319 |
Triosephosphate Isomerase Deficiency |
|
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly |
OMIM:615512 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Splenomegaly |
OMIM:612714 |
Wolman Disease |
|
Hepatomegaly, Hepatic failure, Ascites, Splenomegaly |
ORPHA:75233 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Hypocalcemia, Osteomyelitis, ... |
ORPHA:37042 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:611490 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia |
ORPHA:90362 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Ascites, Cirrhosis, Decreased liver function, Hepatosplenomegaly, Hepatic failure, ... |
ORPHA:367 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly |
OMIM:605309 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... |
OMIM:263200 |
Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase |
OMIM:613280 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly |
OMIM:601979 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Cholelithiasis, Sple... |
ORPHA:231222 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:616689 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... |
ORPHA:2869 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma... |
ORPHA:370 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abnorma... |
ORPHA:400 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... |
ORPHA:171 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Sickle Cell Anemia |
|
Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Jaundice |
OMIM:603903 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Inguinal hernia, Hypocalcemia |
OMIM:235255 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Elevated circulating alanine aminot... |
OMIM:615486 |
Double Outlet Right Ventricle |
|
Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Genitopalatocardiac Syndrome |
|
Abnormality of the gallbladder, Abnormality of mesentery morphology |
ORPHA:2075 |
Sarcoidosis |
|
Hypercalcemia, Bone cyst, Weight loss, Scarring |
ORPHA:797 |
Sotos Syndrome |
|
Ankle flexion contracture, Hypercalcemia, Bilateral camptodactyly, Hip contracture, Craniosynosto... |
ORPHA:821 |
Q Fever |
|
Hepatomegaly, Hepatitis, Splenomegaly, Abnormality of the liver, Hepatosplenomegaly, Cholecystiti... |
ORPHA:781 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Cholangitis, Jaundice |
OMIM:607626 |
Cartilage-Hair Hypoplasia |
|
Failure to thrive, Limited elbow extension, Hypocalcemia, Abnormal bone ossification, Abnormally ... |
ORPHA:175 |
Immunodeficiency 47 |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Accessory... |
OMIM:300972 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Craniosynostosis, Hypophosphatemia, Reduced bone mineral density, Hypocalcemia, Re... |
ORPHA:667 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2237 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia |
OMIM:228100 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Pearson Syndrome |
|
Hypokalemia, Small for gestational age, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnes... |
ORPHA:699 |
MĂĽllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Inguinal hernia, Hypocalcemia |
ORPHA:1655 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis |
OMIM:207800 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Septic arthritis, Diabetes mellitus, Hypocalcemia |
ORPHA:544482 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Cirrhosis, Hepatic failure, Cholecystitis, Portal hypertension |
ORPHA:774 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Osteopetrosis, Hypocalcemi... |
ORPHA:2785 |
Cranioectodermal Dysplasia 1 |
|
Osteoporosis, Enamel hypoplasia, Hypocalcemia, Sagittal craniosynostosis, Joint laxity |
OMIM:218330 |
Acrodysostosis With Multiple Hormone Resistance |
|
Obesity, Hyperphosphatemia, Diabetes mellitus, Hypocalcemia |
ORPHA:280651 |
Vacterl/Vater Association |
|
Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:887 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Calvarial... |
ORPHA:93325 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hepatosplenomegaly, Cholelithiasis, Cholecystitis |
OMIM:301066 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Biliary cirrhosis, Jaundice |
OMIM:613471 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemic tetany, Hypocalcemia |
ORPHA:73224 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hepatic steatosis, Chronic pancreatitis, Cholecystitis, Elevated hepatic transaminase |
ORPHA:98908 |
Rett Syndrome |
|
Cholecystitis |
ORPHA:778 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cirrhosis, Pancreatic islet-cell h... |
OMIM:276700 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Umbilical hernia, Hypocalcemia |
OMIM:192430 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Cholecystitis |
ORPHA:309271 |
Hardikar Syndrome |
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Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... |
OMIM:301068 |
Peroxisome Biogenesis Disorder 1B |
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Cirrhosis, Hepatomegaly, Hepatic fibrosis |
OMIM:601539 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Viral hepatitis, Cholangitis, Cholecystitis, Liver abscess |
ORPHA:183675 |
22Q11.2 Deletion Syndrome |
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Failure to thrive, Abnormal dental enamel morphology, Arthritis, Inguinal hernia, Multiple suture... |
ORPHA:567 |
Atypical Werner Syndrome |
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Type II diabetes mellitus, Chondrocalcinosis, Insulin-resistant diabetes mellitus, Hyperglycemia,... |
ORPHA:79474 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Hyperglycemia, Contractures of the joints of the lower limbs, Failure to thrive, Weight loss, Art... |
ORPHA:99885 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hyperbilirubinemia, Hyperextensibility of the finger joints, Hypocalcemia |
ORPHA:163979 |
Hennekam Syndrome |
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Craniosynostosis, Camptodactyly of finger, Hypocalcemia |
ORPHA:2136 |
Igg4-Related Thyroid Disease |
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Hypocalcemia |
ORPHA:64744 |
Craniofacioskeletal Syndrome |
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Hypocalcemia |
OMIM:300712 |
Listeriosis |
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Splenic abscess, Peritonitis, Jaundice, Cholecystitis, Hepatic granulomatosis, Liver abscess |
ORPHA:533 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:466650 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hip contracture, Failure to thrive, Reduced subcutaneous adipose tissue, Arthrogryposis multiplex... |
OMIM:619503 |
Digeorge Syndrome |
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Umbilical hernia, Hypocalcemia, Obesity, Inguinal hernia, Femoral hernia |
OMIM:188400 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Ascites, Splenomegaly, Hemoperitoneum, Acute pancreatitis, Hepatic failure, Cholecy... |
ORPHA:99827 |
Igg4-Related Kidney Disease |
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Abnormality of mesentery morphology, Retroperitoneal fibrosis, Pancreatitis, Decreased liver func... |
ORPHA:449395 |
Johanson-Blizzard Syndrome |
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Small for gestational age, Failure to thrive, Increased VLDL cholesterol concentration, Diabetes ... |
OMIM:243800 |
Wolf-Hirschhorn Syndrome |
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Abdominal situs inversus, Abnormality of the gallbladder |
ORPHA:280 |
Kawasaki Disease |
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Hepatitis, Cholecystitis, Jaundice |
ORPHA:2331 |
Smith-Lemli-Opitz Syndrome |
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Abnormality of the gallbladder |
ORPHA:818 |
Thymic Aplasia |
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Failure to thrive, Hypocalcemic tetany |
ORPHA:83471 |
Gaisböck Syndrome |
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Cholecystitis |
ORPHA:90041 |
Charge Syndrome |
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Omphalocele, Umbilical hernia, Hypocalcemia |
OMIM:214800 |