Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropath... |
OMIM:615863 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy, Diarrhea |
OMIM:618168 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Villous atrophy, Protracted diarrhea, Abnormal intestine morphology |
OMIM:251850 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Villous atrophy, Intractable diarrhea, Small for gestational age |
OMIM:613217 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Decreased LDL cholesterol concentration, Hypo... |
OMIM:246700 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... |
ORPHA:329971 |
Immunodeficiency 31C |
|
Short stature, Diarrhea, Villous atrophy, Delayed puberty, Diabetes mellitus, Growth delay, Abnor... |
OMIM:614162 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Hematochezia, Weight loss, Abnormal circulating polysaccharide concentration, Protein-l... |
ORPHA:103910 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Vomiting, Villous atrophy, Secretory diarrhea, Micro... |
OMIM:619445 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Decreased circulating cortisol level, Diarrhea, Reactive hypoglycemia, Villous atr... |
OMIM:600955 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223100 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Growth delay, Increased feca... |
OMIM:613291 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... |
ORPHA:95427 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Malabsorption, Hypoalbuminemia |
ORPHA:1954 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Elevated circulating C-reactive protein concentration, Steatorrhea, Diarrhea, Abno... |
ORPHA:2070 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Steatorrhea, Diarrhea, Vomiting, Villous atroph... |
OMIM:602579 |
Hirschsprung Disease |
|
Constipation, Short stature, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Inte... |
ORPHA:388 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Diarrhea, Vomiting, Protein-losing enteropathy,... |
ORPHA:79319 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Diarrhea, Decreased serum... |
OMIM:614602 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis, Hypoalbuminemia |
ORPHA:88643 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Multiple gastric polyps, Hepatoblastoma, Fibroade... |
OMIM:175100 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Diarrhea, Vomiting, Hypoalbuminemia, Abnormal intestine morphology, Secretory di... |
OMIM:600351 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... |
OMIM:619101 |
Refractory Celiac Disease |
|
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Lymphoma, Villous... |
ORPHA:398063 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Duodenitis, Villous atrophy, Bloody diarrhea |
OMIM:614328 |
Alg6-Cdg |
|
Failure to thrive, Macroglossia, Decreased LDL cholesterol concentration, Protein-losing enteropa... |
ORPHA:79320 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Hypoprotein... |
ORPHA:2494 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Hypoalbuminemia, Chronic d... |
ORPHA:79327 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Disseminated cutaneous warts, Weight loss, Hypoalb... |
ORPHA:90362 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Postnatal growth retard... |
OMIM:232700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Diarrhea, Vomiting, Neonatal death, Elevated circulating creatinine concentrat... |
OMIM:608104 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Lymphoma, Abnormality of the small intestine, Growth delay |
ORPHA:100025 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia, Abnormal intestine morphology |
OMIM:606528 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma... |
OMIM:174900 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Vomiting, Nausea, Abnormal small intestinal mucosa morphology, Chronic diarrhea, D... |
ORPHA:103907 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
High palate, Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, ... |
ORPHA:261584 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Gastroesophageal reflux, Hypoproteinemia, Small for gestational age, Pyloric sten... |
OMIM:256300 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomiting, ... |
OMIM:615237 |
Desmoid Tumor |
|
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... |
ORPHA:873 |
Atresia Of Small Intestine |
|
Failure to thrive, Short stature, Intestinal malrotation, Vomiting, Intestinal hypoplasia, Jejuna... |
ORPHA:1201 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Diarrhea, Hematochez... |
ORPHA:2929 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Neoplasm, Stomach cancer, Cachexia, Diarrhea, Furrowed tongue, Intestinal polyposi... |
ORPHA:2930 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Failure to thrive, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
OMIM:601110 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Pancolitis, Vomiting, Protein-losing enteropathy, Esophagiti... |
OMIM:619079 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Fat malabsorption, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Pancreatic Lipase Deficiency |
|
Hypolipidemia, Fat malabsorption, Steatorrhea |
OMIM:614338 |
Immunodeficiency 85 And Autoimmunity |
|
Vomiting, Villous atrophy, Chronic diarrhea, Growth delay, Failure to thrive in infancy |
OMIM:619510 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Temple Syndrome |
|
High palate, Intrauterine growth retardation, Cleft palate, Small for gestational age, Maturity-o... |
OMIM:616222 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Hypoproteinemia, Diarrhea, Vomiting, Intestinal obstruction, Hypoalbuminemia, Grow... |
OMIM:226300 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Postnatal growth retardation, Cleft palate, Small for gestational age, Maturity-onse... |
ORPHA:96184 |
Netherton Syndrome |
|
Failure to thrive, Villous atrophy, Intestinal atresia, Abnormal intestine morphology |
OMIM:256500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Hyperglycinemia, Protein-losing enteropathy |
OMIM:619063 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Diarrhea, Esophageal varix, Hypercholesterolemia |
ORPHA:75234 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Villous atrophy, Protracted diarrhea |
OMIM:209920 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Intestinal malrotation, Di... |
OMIM:615710 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... |
OMIM:135150 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Episodic vomiting, Ileoileal intussusception, Increased intestina... |
OMIM:619377 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Short stature, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoa... |
OMIM:619868 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Ileus, Villous atrophy, Type I diabetes mellitus, Chronic diarrhea |
OMIM:304790 |
Galloway-Mowat Syndrome 6 |
|
High palate, Decreased body weight, Decreased response to growth hormone stimulation test, Short ... |
OMIM:618347 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Hyperplastic colonic po... |
ORPHA:157794 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Diabe... |
ORPHA:181393 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Intestinal polyp, Lymp... |
ORPHA:263665 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Intestinal atresia, Short stature |
OMIM:614326 |
Secondary Intestinal Lymphangiectasia |
|
Malabsorption, Intestinal bleeding, Reduced circulating transferrin concentration, B-cell lymphom... |
ORPHA:90363 |
Ganglioneuroma |
|
Ganglioneuroma, Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Abnormal re... |
ORPHA:251992 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Ovarian neopl... |
ORPHA:144 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Xerostomia, Diarrhea, Vomitin... |
OMIM:175500 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Intrauterine growth retardation, Hypoalbuminemia |
OMIM:617156 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
High palate, Postnatal growth retardation, Maturity-onset diabetes of the young, Hypercholesterol... |
ORPHA:254531 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Short stature |
ORPHA:391646 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126840 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Multiple myeloma, Abnormal circulating fatty-acid concentration, Glycosuria, Po... |
ORPHA:2298 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Short stature, Diarrhea, Hepatocellular carcinoma, Conjugated hyperbilirubinem... |
OMIM:601847 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Protein-losing enteropathy, Hyp... |
OMIM:618183 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Growth delay, Decreased body weight, Gastroesophageal reflux, Constipation, Ab... |
ORPHA:89842 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Colitis, Lymphoproliferative disorder, Inflammation of the large intestine, Ly... |
OMIM:614700 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Vomiting, Hypoglycemia, Delayed puberty, Growth delay, Abno... |
ORPHA:314811 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... |
ORPHA:247585 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Diarrhea, Intestinal obstruction, Protracted diarrhea, Hypoalbumi... |
ORPHA:67 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Small for gestatio... |
ORPHA:567983 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126850 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Papilloma, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Constipation, Hypercholesterolemia |
OMIM:301033 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Fat malabsorption, Growt... |
ORPHA:71 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Type I diabetes mellitus, Failure to thrive in infancy, Chronic diarrhea |
OMIM:606367 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Short stature, Elevated circulating creatine kinase concentratio... |
ORPHA:264580 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hepatocellular carcinoma, Gastric varix, Esophageal varix, Hypoalbuminemia, G... |
ORPHA:64743 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Malabsorption, Exocrine pancreatic insufficiency, Hyperbilirubinemia, Steatorr... |
OMIM:557000 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatocellular carcinoma, Elevated circulating creatine kinase c... |
ORPHA:370 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm, Abnormal large intestine morphology, Narrow palate, Lipoma, Thyroid carcinoma, Uterine ... |
ORPHA:109 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Vomiting, Pyloric stenosis, Intestinal pseudo-obstruction, Congenital sho... |
OMIM:300048 |
Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Short stature, Diarrhea, Conjugated hyperbilirubinemia, Fat ma... |
OMIM:211600 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Villous atrophy, Hypoalb... |
OMIM:212065 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Postnatal growth retardation, Short stature, Ketotic hypoglycemia, Increased body weight, Hepatoc... |
ORPHA:79240 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Diarrhea, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating g... |
ORPHA:247598 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea |
ORPHA:3217 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Hyp... |
OMIM:243150 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Fat malabsorption, Hyperbilirubinemia |
OMIM:214950 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Hepatocellular carcinoma, Abnormal circulating methionine concentration, Eleva... |
ORPHA:88618 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Postnatal growth retardation, Celiac disease, Delayed puberty, Short stature |
OMIM:618985 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea |
ORPHA:309108 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Fanconi Anemia, Complementation Group W |
|
Duodenal atresia, Decreased response to growth hormone stimulation test, Myelodysplasia, Growth d... |
OMIM:617784 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Intractable diarrhea, Small for gestational age, Short stature, Bifid uvula, H... |
OMIM:222470 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Esophageal varix, Hypoalbuminemia |
ORPHA:367 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating corti... |
OMIM:174800 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Diarrhea, Hypocholesterolemia, Fat malabsorption |
OMIM:607765 |
Cap Polyposis |
|
Constipation, Diarrhea, Hematochezia, Colorectal polyposis, Atrophic gastritis, Weight loss |
ORPHA:160148 |
Cog8-Cdg |
|
Hypoglycemia, Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Short stature, Aplasia of the thymus |
ORPHA:3004 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Ileus, Malabsorption, Colitis, Gastritis, Hypomagnesemia, Hypocalcemia... |
ORPHA:37042 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholestero... |
OMIM:278000 |
Turcot Syndrome With Polyposis |
|
Melena, Constipation, Hepatoblastoma, Diarrhea, Vomiting, Soft tissue neoplasm, Hematochezia, Bas... |
ORPHA:99818 |
Gist-Plus Syndrome |
|
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor |
OMIM:175510 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Hepatocellular carcinoma, Conjugated hyperbilirubinemia... |
ORPHA:186 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Adrenocortical adenoma, Neuroendocrine neoplasm, Diarrhea,... |
ORPHA:913 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Short stature, Abetalipoproteinemia, Elevated circulating creatine kinase ... |
ORPHA:96180 |
Nephrotic Syndrome, Type 11 |
|
High palate, Hypoalbuminemia, Cleft palate, Hypercholesterolemia |
OMIM:616730 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Intractable diarrhea, Small for gestational ... |
ORPHA:84064 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Fat malabsorption |
OMIM:200100 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Intestinal polyp, Hemangioma, Large for gestational age, Neonatal hypoglycemia, Cryptorchidism, L... |
ORPHA:457485 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steator... |
ORPHA:14 |
Congenital Contractural Arachnodactyly |
|
High palate, Slender build, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula |
ORPHA:115 |
Disorder Of Bile Acid Synthesis |
|
Fat malabsorption |
ORPHA:79168 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Intermittent diarrhea, Hypercholesterolemia, G... |
ORPHA:263501 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Immunodeficiency 87 And Autoimmunity |
|
Intrauterine growth retardation, Hodgkin lymphoma, Hypokalemia, Increased fecal calprotectin leve... |
OMIM:619573 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Mild postnatal growth retardation, Rectal prolapse, Protein-losing enteropathy, Hy... |
OMIM:235510 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, Short stature, Oropharyngeal squamous cell carcinoma, Diarrhea, Esophageal carcino... |
ORPHA:391487 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Intractable diarrhea, Colitis, Gastritis, Elevated circulating C-reactive protei... |
OMIM:619381 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... |
ORPHA:454840 |
Benign Schwannoma |
|
Vestibular schwannoma, Abnormal esophagus morphology, Intestinal polyposis, Scleral schwannoma, S... |
ORPHA:252164 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinom... |
OMIM:613244 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Colitis, Hypoalbuminemia |
ORPHA:540 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Constipation, Short stature, Hypertriglyceridemia, Hypercholesterol... |
OMIM:182290 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Failure to thrive in infancy, Hypoalbuminemia, Chronic diarrhea |
OMIM:618805 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis |
OMIM:616744 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
High palate, Decreased body weight, Small for gestational age, Short stature, Hypoglycemia, Neona... |
ORPHA:231140 |
Alg12-Cdg |
|
Failure to thrive, Gastroesophageal reflux, Intestinal malrotation, Hypocholesterolemia, Hypoalbu... |
ORPHA:79324 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Slender build, Failure to thrive, Hypocalcemia, Gastroesophageal reflux, Small for g... |
OMIM:613658 |
Mungan Syndrome |
|
Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, Gastroparesis |
OMIM:611376 |
Al Amyloidosis |
|
Macroglossia, Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the gastr... |
ORPHA:85443 |
Mandibuloacral Dysplasia |
|
High palate, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increased circulating fre... |
ORPHA:2457 |
Hepatocellular Carcinoma |
|
Neoplasm, Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Diarrhea, Abnormal rectum m... |
ORPHA:88673 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, Short stature |
OMIM:619013 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Vomiting, Hypoglycemia, Hypoalbuminemia, Growth delay |
OMIM:251880 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Short stature, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperch... |
OMIM:612526 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Abnormal serum bile acid concentration, Conju... |
ORPHA:79303 |
Galloway-Mowat Syndrome 3 |
|
High palate, Failure to thrive, Hiatus hernia, Short stature, Hypoalbuminemia, Intrauterine growt... |
OMIM:617729 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Esophageal varix, Hypercholesterolemia... |
OMIM:619662 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Immunodeficiency 27A |
|
Weight loss, Diarrhea, Hypoalbuminemia |
OMIM:209950 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hyperinsulinemia, Macroglossia, Insulin resistance, Increased C-peptide level,... |
ORPHA:528 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Macroglossia, Small for gestational age, Short stature, Protein-losing enteropathy,... |
OMIM:618440 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia, Growth delay |
OMIM:306000 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Short stature, Hepatocellular carcinoma, Hypoglycemia, Delayed... |
ORPHA:369 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Constipation,... |
ORPHA:2126 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... |
ORPHA:567548 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... |
ORPHA:2089 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Hepatocellular carcino... |
ORPHA:171 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia |
OMIM:617575 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... |
OMIM:619055 |
Laron Syndrome |
|
Severe short stature, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholesterolemia |
ORPHA:633 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased serum thromboxane B2, Esophageal ulceration, Decreased circulating 12-H... |
OMIM:618372 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Mosaic Variegated Aneuploidy Syndrome |
|
Duodenal atresia, Neoplasm, Cleft palate, Stomach cancer, Short stature, Nephroblastoma, Rhabdomy... |
ORPHA:1052 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Meckel diverticulum |
ORPHA:163961 |
Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Esophageal atresia, Short stature |
ORPHA:1305 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Sho... |
ORPHA:1667 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Diarrhea, Neonatal death, Jejunal atresia, Growth delay, Microcolon, Increased circulating very l... |
OMIM:609313 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hypoinsu... |
ORPHA:552 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Hepatocellular carcinoma, Diabetes mellitus, Obesity, Over... |
ORPHA:69663 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Diarrhea, Increased circulating prolactin concentration, Pituitary prolac... |
OMIM:131100 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, Multiple gastri... |
OMIM:175200 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
X-Linked Non-Syndromic Intellectual Disability |
|
Pyloric stenosis, Obesity, Meckel diverticulum, Small for gestational age |
ORPHA:777 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Small bowel diverticula, Colonic diverticula |
OMIM:223330 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Short stature, Hypoalbuminemia, Decreased circulating copper concentration, De... |
OMIM:242150 |
Esophageal Atresia |
|
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... |
ORPHA:1199 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... |
ORPHA:86816 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Increased level of galactitol in ... |
ORPHA:79237 |
Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Constipation, Cleft palate, Short stature, Hypertriglyceridemia, Delayed... |
ORPHA:819 |
Harrod Syndrome |
|
High palate, Failure to thrive, High, narrow palate, Malrotation of small bowel, Pyloric stenosis... |
OMIM:601095 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
Serkal Syndrome |
|
Growth delay, Malrotation of small bowel |
ORPHA:139466 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Fat malabsorption, Hyperbilirubinemia |
ORPHA:79302 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Failure to thrive, Breast aplasia, Intestinal polyposis |
ORPHA:276413 |
Wilson Disease |
|
Hypoparathyroidism, Increased circulating copper concentration, Hyperbilirubinemia, Hepatocellula... |
OMIM:277900 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Meckel diverticulum, Short stature, Pyloric stenosis, Bilateral cryptorchidism... |
OMIM:616395 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Hyperlipidemia, Enterocolitis, Short stature, Hepatocellular carcinoma, Diarrh... |
ORPHA:79259 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Dysphagia, Hypoglycemia, Intrauterine growth retardation, Hyperammonemia |
OMIM:618253 |
Galloway-Mowat Syndrome 1 |
|
High palate, Hiatus hernia, Small for gestational age, Short stature, Hypoalbuminemia, Intrauteri... |
OMIM:251300 |
Microform Holoprosencephaly |
|
Duodenal atresia, Cleft palate, Short stature, Hemangioma, Panhypopituitarism, Maternal diabetes,... |
ORPHA:280200 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Lymphoma |
OMIM:308240 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis |
ORPHA:2547 |
Aicardi Syndrome |
|
Malabsorption, Hiatus hernia, Hepatoblastoma, Cleft palate, Gastroesophageal reflux, Constipation... |
ORPHA:50 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Mednik Syndrome |
|
Abnormal intestine morphology, Decreased circulating ceruloplasmin concentration, Decreased circu... |
ORPHA:171851 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Short stature, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft h... |
OMIM:619227 |
Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Duodenal atresia, Tracheoesophageal fistula, Growth delay, Esoph... |
OMIM:300514 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Duodenal ulcer |
OMIM:217090 |
Bannayan-Riley-Ruvalcaba syndrome |
|
High palate, Lipoma, Supernumerary nipple, Intussusception, Hemangioma, Multiple lipomas, Hematoc... |
OMIM:153480 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Growth delay, Constipation, Macro... |
ORPHA:90674 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Hodgkin lymphoma, Short stature, Type I diabetes mellitus, Del... |
OMIM:615952 |
Cowden Syndrome 5 |
|
Hydrocele testis, High palate, Breast carcinoma, Ovarian cyst, Furrowed tongue, Transitional cell... |
OMIM:615108 |
Leishmaniasis |
|
Weight loss, Hypoalbuminemia |
ORPHA:507 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ke... |
OMIM:262190 |
Oligodontia-Colorectal Cancer Syndrome |
|
Adenomatous colonic polyposis, Colon cancer, Fundic gland polyposis, Breast carcinoma |
OMIM:608615 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hypoglycemia, Dysphagia, Cryptorchidism, Intrauterine growth retardation |
OMIM:618958 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Gastroesophageal reflux, Diarrhea, Bifid uvula, Vomiting, Hypoplastic ni... |
ORPHA:79328 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Peptic ulcer, Hyperuri... |
ORPHA:90041 |
Cowden Syndrome 6 |
|
Hydrocele testis, High palate, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Furrow... |
OMIM:615109 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Megalocornea-Mental Retardation Syndrome |
|
High palate, Short stature, Bifid uvula, Hypercholesterolemia, Dysphagia |
OMIM:249310 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hypoglycemia, Hypoalbuminemia, Bile duct proliferation, Hyperalaninemia |
OMIM:618329 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Steatorrhea, Cachexia, Diarrhea, Vomiting, Hypertriglyceridemia, Esophageal va... |
ORPHA:275761 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Colitis, Intrauterine growth retardation, Esophageal stenosis |
OMIM:615190 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Severe intrauterine growth retardation, Duodenal atresia, Decreased response to growth hormone st... |
OMIM:614114 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Ele... |
ORPHA:90291 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Scleroderma |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Ele... |
ORPHA:801 |
Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Duodenal atresia, Decreased response to growth hormone stimulation test, Short... |
OMIM:603467 |
Scedosporiosis |
|
Abnormal jejunum morphology, Diabetes mellitus |
ORPHA:449280 |
Galloway-Mowat Syndrome 7 |
|
High palate, Short stature, Cleft palate, Hypercholesterolemia |
OMIM:618348 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage, Cavernous he... |
ORPHA:774 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Growth delay, Hyperlipidemia, Hyperinsulinemia, Impaired glucose tolerance, Insulin-... |
OMIM:248370 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Duodenal atresia, Intestinal malrotation, Growth delay, Cryptorchidism, Gastrointestinal dysmotility |
OMIM:617798 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Hypocalcemia, Steatorrhea, Short stature, Diarrhea, Vomiting, Lymphoma, Stomat... |
OMIM:212750 |
Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Elevated 7-dehydrocholesterol, Intrauterine growth retardation, Gastroesophage... |
OMIM:270400 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Crypt... |
ORPHA:2470 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Type I diabetes mellitus, Celiac disease |
ORPHA:3143 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Failure to thrive, Decreased response to growth hor... |
ORPHA:470 |
Stromme Syndrome |
|
Duodenal atresia, Cleft palate, Intestinal malrotation, Jejunal atresia, Stillbirth |
OMIM:243605 |
Visceral Myopathy 1 |
|
Constipation, Diarrhea, Vomiting, Dysphagia, Megaduodenum, Intestinal pseudo-obstruction, Microco... |
OMIM:155310 |
Cowden Syndrome 1 |
|
Hydrocele testis, High palate, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Furrow... |
OMIM:158350 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Pyloric stenosis, Hypoglycemia, Intrauterine growth retardation, Chronic diarrhea |
OMIM:616355 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Ovarian neoplasm, Thyroid carcinoma, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Liver Failure, Infantile, Transient |
|
Vomiting, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Gastroesophageal reflux, Hyposerinemia, Esophagitis |
ORPHA:79350 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Diarrhea, Elevated circulating creatine ki... |
ORPHA:454836 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... |
OMIM:603553 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hypocalcemia, Cleft palate, Hypoproteinemia, Protein-losing enteropathy, Pancreatic ... |
OMIM:235255 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Macroglossia |
OMIM:617303 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hypocalcemia, Hypoproteinemia, Protein-losing enteropathy, Pancreatic lymphangiectas... |
ORPHA:1655 |
Fryns Syndrome |
|
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Cleft palate,... |
ORPHA:2059 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Growth delay, Smooth tongue, Hypoalbuminemia, Squamous cell carcinoma of the skin |
ORPHA:79396 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Diabetes mellitus, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Multiple Endocrine Neoplasia Type 1 |
|
Melena, Pituitary growth hormone cell adenoma, Thymoma, Constipation, Intestinal carcinoid, Diarr... |
ORPHA:652 |
Leigh Syndrome With Nephrotic Syndrome |
|
Episodic vomiting, Intrauterine growth retardation, Hypoalbuminemia |
ORPHA:255249 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract |
ORPHA:2847 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Episodic vomiting, Elevated ... |
OMIM:615160 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis, Postnatal growth retardation |
OMIM:617219 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Pituitary adenoma, Adrenocorticotropic hormone deficiency,... |
ORPHA:199299 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia |
ORPHA:656 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158061 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Short stature, Type II diabetes mellitus, Overweight, Hypercholesterolemia |
ORPHA:401923 |
Isolated Biliary Atresia |
|
Failure to thrive, Severe failure to thrive, Small for gestational age, Conjugated hyperbilirubin... |
ORPHA:30391 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Short stature, Rhizomelia, Cryptorchidism, Meckel diverticulum |
OMIM:602613 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Weight loss, Intrauterine growth retardation, Hypoalbuminemia |
OMIM:619487 |
Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Odynophagia, Orchitis, Hypokalemia, Hyperammonemia, Elevated circulating creatin... |
ORPHA:99826 |
Cowden Syndrome |
|
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... |
ORPHA:201 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatoblastoma, Cleft palate, Large for gestational age, Adren... |
ORPHA:116 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
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Secretory diarrhea, Hypoalbuminemia |
OMIM:614441 |
Metachromatic Leukodystrophy |
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Abnormal gallbladder morphology, Abnormal stomach morphology, Intussusception, Abnormal duodenum ... |
ORPHA:512 |
Menke-Hennekam Syndrome 2 |
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Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Megalocornea-Intellectual Disability Syndrome |
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High palate, Short stature, Hypercholesterolemia |
ORPHA:2479 |
Feingold Syndrome Type 1 |
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Anal atresia, Duodenal atresia, Short stature, Gastrointestinal atresia, Jejunal atresia, Esophag... |
ORPHA:391641 |
Hypoplasminogenemia |
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Abnormality of the ovary, Duodenal ulcer, Decreased level of plasminogen |
ORPHA:722 |
Mirage Syndrome |
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Decreased body weight, Gastroesophageal reflux, Short stature, Esophageal stricture, Hypoglycemia... |
OMIM:617053 |
Bacterial Toxic-Shock Syndrome |
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Hypocalcemia, Peritonitis, Diarrhea, Elevated circulating creatine kinase concentration, Vomiting... |
ORPHA:36234 |
Miller-Dieker Lissencephaly Syndrome |
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Failure to thrive, Duodenal atresia, Cleft palate, Cryptorchidism, Intrauterine growth retardation |
OMIM:247200 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Vomiting, Nausea, Hypercholesterolemia, Hypopituitarism, Hyperglycemia |
ORPHA:90065 |
Cat Eye Syndrome |
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Anal atresia, Rectal fistula, Cleft palate, Short stature, Intestinal malrotation, Volvulus, Anal... |
OMIM:115470 |
Whim Syndrome |
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Papilloma, Cutaneous melanoma, Abnormality of the small intestine, Verrucae, Parotitis |
ORPHA:51636 |
Xfe Progeroid Syndrome |
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Failure to thrive, Severe short stature, Hypoalbuminemia, Cachexia |
OMIM:610965 |
Distal Monosomy 12Q |
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Annular pancreas, Growth delay, Duodenal atresia, Pituitary adenoma, High, narrow palate, Short s... |
ORPHA:96149 |
Congenital Tracheal Stenosis |
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Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Failure to thrive, Duodenal atresia, Gastroesophageal reflux, Small for gestational age, Short st... |
ORPHA:464306 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Failure to thrive, Duodenal atresia, Gastroesophageal reflux, Small for gestational age, Birth le... |
ORPHA:464311 |
Immunodeficiency 59 And Hypoglycemia |
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High palate, Malabsorption, Short stature, Hypoglycemia, Recurrent aphthous stomatitis, Chronic d... |
OMIM:233600 |
Congenital Enterovirus Infection |
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Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Storm Syndrome |
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Fat malabsorption |
OMIM:185069 |
Addison Disease |
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Hypoparathyroidism, Thymoma, Failure to thrive, Constipation, Decreased circulating cortisol leve... |
ORPHA:85138 |
Sanjad-Sakati Syndrome |
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Hypoparathyroidism, Severe intrauterine growth retardation, Hypocalcemia, Short stature, Congenit... |
ORPHA:2323 |
Shwachman-Diamond Syndrome |
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Failure to thrive, Exocrine pancreatic insufficiency, Hypoamylasemia, Decreased response to growt... |
ORPHA:811 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Recurrent gastroenteritis, Hypoalbuminemia, Macroglossia |
ORPHA:505248 |
Feingold Syndrome 1 |
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High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia |
OMIM:164280 |
Refractory Anemia With Excess Blasts |
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Single lineage myelodysplasia, Multiple lineage myelodysplasia, Abnormal circulating albumin conc... |
ORPHA:86839 |
Congenital Alveolar Capillary Dysplasia |
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Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... |
ORPHA:210122 |
Dextrocardia |
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Pancreatic hypoplasia, Neuroblastoma, Intestinal malrotation, Meckel diverticulum |
ORPHA:1666 |
Shigellosis |
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Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Peritonitis, Vomiting, H... |
ORPHA:810 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Cholesterol gallstones, Hyperchole... |
ORPHA:209902 |
Meier-Gorlin Syndrome 7 |
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High palate, Anal atresia, Decreased body weight, Cleft palate, Short stature, Anal stenosis, Duo... |
OMIM:617063 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Intrauterine growth retardation, Bloody diarrhea, Intestinal atresia, Intestinal malrotation, Hyp... |
ORPHA:436252 |
Mosaic Trisomy 16 |
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Small for gestational age, Abnormality of the gastrointestinal tract, Maternal diabetes, Anterior... |
ORPHA:1708 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Constipation... |
ORPHA:273 |
Acute Bilirubin Encephalopathy |
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Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Failure to thrive, Gastroesophageal reflux, Hyperbi... |
OMIM:619534 |
Jacobsen Syndrome |
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Annular pancreas, Ectopic anus, Duodenal atresia, Constipation, Short stature, Intestinal malrota... |
ORPHA:2308 |
Dysbetalipoproteinemia |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Lipodystrophy, Familial Partial, Type 7 |
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Glucose intolerance, Failure to thrive, Insulin resistance, Small for gestational age, Diarrhea, ... |
OMIM:606721 |
Glycogen Storage Disease Ia |
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Growth delay, Hyperlipidemia, Short stature, Hepatocellular carcinoma, Hypoglycemia, Intermittent... |
OMIM:232200 |
Oculocerebrorenal Syndrome Of Lowe |
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Failure to thrive, Malabsorption, Narrow palate, Gastroesophageal reflux, Hypophosphatemia, Hypok... |
ORPHA:534 |
Diets-Jongmans Syndrome |
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Cryptorchidism, Duodenal atresia, Short stature |
OMIM:618846 |
Immunodeficiency, Common Variable, 10 |
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Pyloric stenosis, Hypoglycemia, Decreased response to growth hormone stimulation test, Frequent G... |
OMIM:615577 |
Medulloblastoma |
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Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the... |
ORPHA:616 |
Glycogen Storage Disease Ib |
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Hyperlipidemia, Short stature, Pancreatic fibrosis, Hepatocellular carcinoma, Inflammation of the... |
OMIM:232220 |
Tarp Syndrome |
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Failure to thrive, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cryp... |
ORPHA:2886 |
Fryns Syndrome |
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Anal atresia, Duodenal atresia, Stillbirth, Cleft palate, Intestinal malrotation, Ectopic pancrea... |
OMIM:229850 |
Lipodystrophy, Familial Partial, Type 2 |
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Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:151660 |
Glycogen Storage Disease Ixc |
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Growth delay, Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Bile duct proliferation, ... |
OMIM:613027 |
Leprechaunism |
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Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hypokalemi... |
ORPHA:508 |
Holoprosencephaly 13, X-Linked |
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Duodenal atresia, Gastroesophageal reflux, Median cleft palate, Cleft palate, Submucous cleft har... |
OMIM:301043 |
Late-Onset Familial Hypoaldosteronism |
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Failure to thrive, Elevated serum 11-deoxycortisol, Vomiting, Increased circulating renin level, ... |
ORPHA:556037 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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High palate, Annular pancreas, Duodenal atresia, Gastroesophageal reflux, Short stature, Furrowed... |
OMIM:616975 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine |
OMIM:200995 |
Tyrosinemia, Type I |
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Melena, Paralytic ileus, Hypophosphatemic rickets, Failure to thrive, Growth delay, Elevated alph... |
OMIM:276700 |
Autosomal Recessive Polycystic Kidney Disease |
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Growth delay, Cholangiocarcinoma, Hepatoblastoma, Esophageal varix, Fat malabsorption, Protein-lo... |
ORPHA:731 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hydrocele testis, Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Duodenal atresia, Severe short stature, Severe failure to thrive, Cryptorchidism, Intrauterine gr... |
ORPHA:468631 |
Focal Dermal Hypoplasia |
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Giant cell tumor of bone, Papilloma, Duodenal atresia, Gastroesophageal reflux |
ORPHA:2092 |
Hyperlipoproteinemia, Type I |
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Hyperlipidemia, Vomiting, Lactescent serum, Increased circulating chylomicron concentration, Naus... |
OMIM:238600 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... |
OMIM:265380 |
Iniencephaly |
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Anal atresia, Duodenal atresia, Rhizomelia |
ORPHA:63259 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Decreased testicular size, Laryngeal carcinoma, Hypercholesterolemia, Carci... |
OMIM:610644 |
Zygomycosis |
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Melena, Colitis, Gastritis, Unusual gastrointestinal infection, Ileitis, Enterocolitis, Hematemes... |
ORPHA:73263 |
Alagille Syndrome 1 |
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Failure to thrive, Exocrine pancreatic insufficiency, Hepatocellular carcinoma, Papillary thyroid... |
OMIM:118450 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Musculocontractural Ehlers-Danlos Syndrome |
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High palate, Constipation, Cleft palate, Malrotation of small bowel, Cryptorchidism |
ORPHA:2953 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Hematoc... |
OMIM:175050 |
Liver Disease, Severe Congenital |
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Hydrocele testis, Chronic gastritis, Increased circulating ferritin concentration, Exocrine pancr... |
OMIM:619991 |
Apolipoprotein C-Ii Deficiency |
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Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Ataxia With Vitamin E Deficiency |
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Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Sitosterolemia 1 |
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Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... |
OMIM:210250 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Intrauterine growth retardation, Small bowel diverticula |
ORPHA:90349 |
Immunodeficiency 47 |
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Failure to thrive, Exocrine pancreatic insufficiency, Chronic diarrhea, Decreased circulating cop... |
OMIM:300972 |
Lowe Oculocerebrorenal Syndrome |
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Failure to thrive, Constipation, Short stature, Bicarbonaturia, Hypercholesterolemia, Elevated ma... |
OMIM:309000 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Abdominal obesity, Truncal obesity, Hypercholesterolemia |
OMIM:615812 |
Townes-Brocks Syndrome 1 |
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Anal atresia, Duodenal atresia, Gastroesophageal reflux, Small for gestational age, Tracheoesopha... |
OMIM:107480 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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High palate, Hiatus hernia, Constipation, Cleft palate, Intestinal malrotation, Abnormal duodenum... |
OMIM:601776 |
Heterotaxy, Visceral, 5, Autosomal |
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Intestinal malrotation, Duodenal atresia, Intrauterine growth retardation |
OMIM:270100 |
Fanconi Anemia |
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High palate, Anal atresia, Neoplasm, Absent testis, Meckel diverticulum, Cleft palate, Short stat... |
ORPHA:84 |
Bardet-Biedl Syndrome 20 |
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Obesity, Bilateral cryptorchidism, Hypercholesterolemia |
OMIM:619471 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Failure to thrive, Breast carcinoma, Decreased circulating cortisol level, Endometrial carcinoma,... |
ORPHA:90790 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Papillary renal cell carcinoma, Hypertriglyceridemia, Basal cell carcinoma, Hypercholesterolemia,... |
ORPHA:363618 |
Trisomy 8P |
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Annular pancreas, Constipation, Neuroblastoma, Cleft palate, Malrotation of small bowel, Bifid uv... |
ORPHA:264450 |
Heterotaxy, Visceral, 1, X-Linked |
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Posteriorly placed anus, Anal atresia, Duodenal atresia, Failure to thrive |
OMIM:306955 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Microcolon, Peritonitis, Ileal atresia |
OMIM:619351 |
Charge Syndrome |
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Hypoparathyroidism, Anal atresia, Duodenal atresia, Hypocalcemia, Decreased response to growth ho... |
OMIM:214800 |
Fraser Syndrome 1 |
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Cryptorchidism, Abnormality of the small intestine, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Fructose Intolerance, Hereditary |
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Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Vomiting, Hypoglycemia, Naus... |
OMIM:229600 |
Basal Cell Nevus Syndrome |
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Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcin... |
OMIM:109400 |
Autosomal Dominant Cutis Laxa |
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Postnatal growth retardation, Vomiting, Intrauterine growth retardation, Small bowel diverticula |
ORPHA:90348 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Hepatoblastoma, Hepatocellular carcinoma, Hypoglycemia, Hyperuricemia, Xanthelasm... |
OMIM:232240 |
Down Syndrome |
|
Anal atresia, Macroglossia, Short stature, Myeloproliferative disorder, Acute megakaryocytic leuk... |
OMIM:190685 |
Coffin-Siris Syndrome 1 |
|
High palate, Intrauterine growth retardation, Intussusception, Cleft palate, Intestinal malrotati... |
OMIM:135900 |
Wolf-Hirschhorn Syndrome |
|
Failure to thrive, Gastroesophageal reflux, Cleft palate, Small for gestational age, Severe postn... |
OMIM:194190 |
Pmm2-Cdg |
|
High palate, Failure to thrive, Elevated circulating growth hormone concentration, Hyperinsulinem... |
ORPHA:79318 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Short stature, Facial capillary hemangioma, Pancreatic cysts, Meckel diverticulum |
OMIM:274000 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Hypoalbuminemia |
ORPHA:75565 |
Viss Syndrome |
|
High palate, Chronic gastritis, Failure to thrive, Gastroesophageal reflux, High, narrow palate, ... |
OMIM:619472 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Anal atresia, Narrow palate, Hepatoblastoma, Cleft palate, Supernumerary nipple, Macroglossia, In... |
OMIM:312870 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |