Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Annular Pancreas |
|
High intestinal obstruction, Annular pancreas, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Annular pancreas, Duodenal stenosis |
OMIM:167750 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... |
OMIM:601346 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas, Duodenal atresia |
ORPHA:1203 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology |
ORPHA:2978 |
Serrated Polyposis Syndrome |
|
Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Bili... |
ORPHA:157798 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Melena, Gastric adenocarcinoma |
OMIM:619182 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Intes... |
OMIM:615710 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly |
OMIM:613490 |
Pancreatic Agenesis 2 |
|
Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:615935 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft palate, Atrophic gastritis, Stomach cancer |
OMIM:137215 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c... |
OMIM:167800 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... |
OMIM:615703 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... |
ORPHA:139507 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... |
OMIM:619868 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Dubin-Johnson Syndrome |
|
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Perlman Syndrome |
|
High, narrow palate, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... |
ORPHA:263665 |
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Gastric varix, Perip... |
ORPHA:64743 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly |
ORPHA:664 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma |
ORPHA:281090 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia |
OMIM:620211 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Esophageal varix, Portal hypertension, Splenomegaly, Nodular regenerative hyperpla... |
OMIM:620367 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... |
OMIM:208540 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Aganglionic megacolon, Tracheoesophageal fistula, Asplenia, Intestinal malrotat... |
ORPHA:210122 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... |
ORPHA:2494 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... |
ORPHA:103918 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... |
OMIM:616828 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... |
ORPHA:2357 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia |
OMIM:612526 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... |
ORPHA:2470 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... |
ORPHA:1876 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Gastrointestinal Stromal Tumor |
|
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... |
ORPHA:44890 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia |
OMIM:260370 |
Feingold Syndrome |
|
Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia |
ORPHA:1305 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Pyloric stenosis, High palate, Bilateral cryptorchidism |
ORPHA:314575 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease |
OMIM:211890 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... |
OMIM:300048 |
Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Abnormal pituitary gland morphology, Nodu... |
ORPHA:64744 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
Reynolds Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Abnormal gastric mucosa morphology, D... |
ORPHA:779 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Hypoplasia of the small intestine, Hypoplastic colon, Hepatic fibrosis, Pancreatic ... |
OMIM:200995 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe... |
ORPHA:2538 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... |
ORPHA:90291 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder... |
ORPHA:512 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Shwachman-Diamond Syndrome 2 |
|
Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, High palate, Exocrine pancreatic insufficiency |
OMIM:617941 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia |
ORPHA:79237 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... |
ORPHA:247585 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hypertension, Splenomega... |
OMIM:263200 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp... |
ORPHA:449432 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormal intestine morphology, Cleft palate, Pancreatic cysts, Abnormality of the p... |
ORPHA:1318 |
Bohring-Opitz Syndrome |
|
Narrow palate, Hyperechogenic pancreas, Gastroesophageal reflux, Bilateral cleft palate, Unilater... |
OMIM:605039 |
Atelosteogenesis Type I |
|
Cleft palate, Abnormal pancreatic duct morphology, Malrotation of colon |
ORPHA:1190 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... |
ORPHA:456312 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Hardikar Syndrome |
|
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m... |
OMIM:301068 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... |
OMIM:619662 |
Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... |
ORPHA:412 |
Feingold Syndrome 1 |
|
Annular pancreas, Gastrointestinal atresia, Esophageal atresia, Accessory spleen, High palate, Tr... |
OMIM:164280 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... |
ORPHA:141127 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Spleno... |
OMIM:232220 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... |
OMIM:278000 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Aceruloplasminemia |
|
Elevated hepatic iron concentration, Abnormal pancreas morphology |
ORPHA:48818 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibros... |
OMIM:616263 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnor... |
ORPHA:93111 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... |
OMIM:610199 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Nephronophthisis 13 |
|
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts |
OMIM:614377 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Sitosterolemia 1 |
|
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... |
OMIM:210250 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Tracheoesophageal fistula, Pyloric stenosis, Splenomegaly |
ORPHA:379 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Bone Marrow Failure Syndrome 3 |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Pancreatic steatosis, Cryptorchidism |
OMIM:617052 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Hepatomegaly, Macronodular cirrhosis, Exocrine pancreatic insufficiency, Pancreatic ... |
OMIM:557000 |
Fryns Syndrome |
|
Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Intestinal malrotat... |
OMIM:229850 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... |
OMIM:208500 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts |
OMIM:616307 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Cleft palate, Microglossia, Hepatic fibrosis, Hamart... |
OMIM:263520 |
Distal Deletion 12Q |
|
Annular pancreas, High, narrow palate, Esophageal atresia, Biliary atresia, Unilateral cryptorchi... |
ORPHA:96149 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Jacobsen Syndrome |
|
Annular pancreas, Ectopic anus, Intestinal malrotation, Pyloric stenosis, Abnormality of the anus... |
ORPHA:2308 |
Meckel Syndrome |
|
Accessory spleen, Furrowed tongue, Asplenia, Cryptorchidism, Cleft palate, Congenital hepatic fib... |
ORPHA:564 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Steatorr... |
ORPHA:699 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Jaundice, Protein-losing enteropathy, Cholangitis, Periportal fibros... |
ORPHA:731 |
Meckel Syndrome, Type 7 |
|
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... |
OMIM:267010 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Jacobsen Syndrome |
|
Pyloric stenosis, Annular pancreas, Cryptorchidism |
OMIM:147791 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, ... |
OMIM:265380 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, High palate |
OMIM:618162 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula |
OMIM:227646 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidism, Large intestinal polyposis,... |
ORPHA:116 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Trisomy 8P |
|
Annular pancreas, Bifid uvula, Cleft palate, Malrotation of small bowel, Cryptorchidism, Aplasia/... |
ORPHA:264450 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hyperammonemia, Hypercholesterolemia |
OMIM:620454 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Annular pancreas, Gastroesophageal reflux, High palate, Furrowed tongue, Cryptorchidism, Duodenal... |
OMIM:616975 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Cryptorchidism, High palate, Anteriorly placed anus |
OMIM:268400 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... |
ORPHA:470 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Cleft palate, Ankyloglossia |
ORPHA:488642 |
1P36 Deletion Syndrome |
|
Annular pancreas, Gastroesophageal reflux, Abnormal intestine morphology, Pyloric stenosis, Abnor... |
ORPHA:1606 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Pheochromocytoma, Neoplasm of the pancreas, Pancreatic cysts |
OMIM:193300 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... |
ORPHA:186 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic atrophy, Pancreatic hypo... |
OMIM:137920 |
Prader-Willi Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:176270 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Cleft palate, Cholelithiasis |
ORPHA:97297 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... |
ORPHA:90041 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Intestinal atresia, Congenital pyloric atresia |
ORPHA:79403 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Aganglionic megacolon, High palate, Dysphagia, Hepatoblastoma, Streak ovary, An... |
ORPHA:798 |
Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia |
ORPHA:79259 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Viss Syndrome |
|
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... |
OMIM:619472 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Williams Syndrome |
|
Peptic ulcer, Rectal prolapse, Cholelithiasis, Gastroesophageal reflux, Tracheoesophageal fistula... |
ORPHA:904 |
Lowe Oculocerebrorenal Syndrome |
|
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... |
OMIM:309000 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Narrow palate |
OMIM:614020 |