Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Generalized aminoaciduria, Diarrhea, Abnormal intestine morphology, Vomiting, H... |
OMIM:606528 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... |
OMIM:308990 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... |
OMIM:240900 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Small for gestational age, Hypoinsulinem... |
ORPHA:99886 |
Mody |
|
Abnormality of the kidney, Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Renal ... |
ORPHA:552 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating c... |
OMIM:600955 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... |
OMIM:609968 |
Familial Renal Glucosuria |
|
Glycosuria, Recurrent urinary tract infections, Nephropathy, Renal tubular dysfunction |
ORPHA:69076 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, Glycosuria, Postprandial hypergl... |
ORPHA:2089 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Glucoglycinuria |
|
Glycosuria, Hyperglycinuria |
OMIM:138070 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... |
ORPHA:293964 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... |
OMIM:614817 |
Variegate Porphyria |
|
Elevated urinary delta-aminolevulinic acid, Increased fecal protoporphyrin concentration, Increas... |
OMIM:176200 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Ketonuria |
OMIM:618857 |
Fanconi Renotubular Syndrome 2 |
|
Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp... |
OMIM:613388 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
Glucose/Galactose Malabsorption |
|
Glycosuria, Chronic diarrhea, Abnormal oral glucose tolerance |
OMIM:606824 |
Short Stature Due To Ghsr Deficiency |
|
Delayed puberty, Hypoglycemia, Vomiting, Decreased serum insulin-like growth factor 1 |
ORPHA:314811 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Diarrhea... |
ORPHA:263455 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Short stature, Obesity, Aggressive behavior |
ORPHA:329249 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... |
OMIM:256450 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria |
OMIM:615605 |
Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Fasting hypoglycemia, Hepatoce... |
ORPHA:2088 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:79299 |
Coproporphyria, Hereditary |
|
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Diarrhea, Increase... |
OMIM:121300 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... |
OMIM:601820 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Fanconi Renotubular Syndrome 1 |
|
Low-molecular-weight proteinuria, Renal tubular dysfunction, Glycosuria, Hyperphosphaturia, Impai... |
OMIM:134600 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypoglycemia, Diabetes mellitus, Am... |
OMIM:616026 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... |
ORPHA:411593 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... |
OMIM:262400 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria |
OMIM:618913 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Dent Disease 1 |
|
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... |
OMIM:300009 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Polyphagia, Obesity, Type II diabetes mellitus |
ORPHA:71529 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal salivary gland morphology, Hyperinsulinemic hypoglycemia, Fasting hypo... |
ORPHA:2298 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... |
ORPHA:71526 |
Dent Disease |
|
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... |
ORPHA:1652 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Renal tubular acidosis, Nephrogenic diabetes insipidus, Glycosuria, Nephrocalcinosis, Proteinuria... |
OMIM:613404 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Osteopenia, Reduced bone mineral density, Long toe, Short stature, ... |
OMIM:619489 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Increased urine alpha-ketoglutarate conc... |
ORPHA:35878 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... |
OMIM:231680 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... |
ORPHA:276580 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... |
OMIM:147630 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance |
ORPHA:369873 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog... |
OMIM:619079 |
Renal Hypoplasia, Bilateral |
|
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... |
ORPHA:97362 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... |
OMIM:262700 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... |
ORPHA:3337 |
Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... |
ORPHA:453533 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Generalized bone deminerali... |
OMIM:600785 |
Obesity And Hypopigmentation |
|
Obesity, Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
Eiken Syndrome |
|
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... |
ORPHA:79106 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weigh... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Agitation, Diffuse pancreatic... |
ORPHA:276575 |
Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Fasting hypoglycemia, Hypercalciuria, Renal tubular dysfunction, Beta ... |
OMIM:227810 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Vomiting, Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Rena... |
ORPHA:436271 |
Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Maturity-onset diabetes of the young, Multiple glomerular cysts, Hypos... |
OMIM:137920 |
Porphyria, Acute Hepatic |
|
Elevated urinary delta-aminolevulinic acid, Vomiting |
OMIM:612740 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
High palate, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Proteinuria, Aminoaciduria, R... |
OMIM:220110 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, High palate, Short stature, Pr... |
OMIM:262190 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Juvenile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Microscopic hema... |
ORPHA:411634 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... |
ORPHA:174 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Vomit... |
OMIM:229600 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... |
ORPHA:2198 |
Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Proximal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Di... |
ORPHA:47159 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin, Insulin resistance |
OMIM:617885 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Diarrhea, Proximal tubulopathy, Renal cyst, Vomiting, Hy... |
OMIM:602579 |
Infantile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Vomiting, Glycosuria, Hyperp... |
ORPHA:411629 |
Myasthenia Gravis |
|
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Dysphagia, Abnormal thymus morp... |
ORPHA:589 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome |
OMIM:268315 |
Seckel Syndrome 10 |
|
Glucose intolerance, Impaired glucose tolerance, Glycosuria, Elevated circulating follicle stimul... |
OMIM:617253 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Osteoporosis |
OMIM:610947 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Agitation, Diffuse pancreatic islet hyperplasia... |
ORPHA:276556 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy, Diarrhea, Hypothyroidism, Vomiting, Hype... |
ORPHA:79319 |
Insulinoma |
|
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... |
ORPHA:97279 |
Hereditary Coproporphyria |
|
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Episodic vomiting,... |
ORPHA:79273 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Osteoporosis, Short stature, Hyperinsulinemic hypoglycemia, D... |
OMIM:616033 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level, Chr... |
ORPHA:103907 |
Congenital Short Bowel Syndrome |
|
Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, Congenital shortened sm... |
OMIM:615237 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy |
OMIM:615863 |
Cystinosis, Nephropathic |
|
Low-molecular-weight proteinuria, Polyuria, Delayed puberty, Male hypogonadism, Hematuria, Genera... |
OMIM:219800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Abnormality of the upper... |
ORPHA:99885 |
Solitary Fibrous Tumor |
|
Hypoinsulinemia, Hypoglycemia, Constipation, Recurrent hypoglycemia, Neoplasm of the liver, Urina... |
ORPHA:2126 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... |
OMIM:262600 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hypoglycemia, Aminoaciduria |
ORPHA:664 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... |
OMIM:156500 |
Secondary Short Bowel Syndrome |
|
Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Diarrhea, Small intestinal dysmotilit... |
ORPHA:95427 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Hereditary Renal Hypouricemia |
|
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... |
ORPHA:94088 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Alaninuria |
OMIM:615158 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Protracted diarrhea, Villous atrophy |
OMIM:251850 |
Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:66628 |
Glucocorticoid Deficiency 3 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... |
OMIM:609197 |
Mitchell-Riley Syndrome |
|
Meckel diverticulum, Diarrhea, Intestinal malrotation, Diabetes mellitus, Hyperglycemia, Acholic ... |
OMIM:615710 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:179494 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Diarrhea, Blue urine, Increased p... |
ORPHA:94086 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Steatorrhea, Fat malabsorption, Chronic diarrhea |
OMIM:613291 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Bdv Syndrome |
|
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... |
OMIM:619326 |
Alg1-Cdg |
|
Abnormality of the kidney, Protein-losing enteropathy, Abnormality of the gastrointestinal tract,... |
ORPHA:79327 |
Tenorio Syndrome |
|
Recurrent aphthous stomatitis, Gastroesophageal reflux, Hypoinsulinemia, Enuresis, Hypoglycemia, ... |
OMIM:616260 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... |
ORPHA:3143 |
Porphyria, Acute Intermittent |
|
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Diarrhea, Hepatocellular carcin... |
OMIM:176000 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Short stature, Obesity, Short toe, Type II diab... |
ORPHA:3085 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Glycosuria, Glucose intolerance, Exocrine pancreatic insufficiency, Renal tubular dysfunction |
OMIM:616539 |
Wilson Disease |
|
Increased urinary copper concentration, Hypoparathyroidism, Hypercalciuria, Esophageal varix, Hep... |
OMIM:277900 |
Pearson Syndrome |
|
Steatorrhea, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Chronic d... |
ORPHA:699 |
Estrogen Resistance |
|
Delayed puberty, Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired ... |
OMIM:615363 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short stature, Short middle phalanx of finger, Glucose intolerance, Anal atresia |
OMIM:309620 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Propionic Acidemia |
|
Constipation, Hypoglycemia, Organic aciduria |
ORPHA:35 |
Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal cortical bone morphology, Abnorma... |
ORPHA:3344 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... |
OMIM:613986 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Microcolon, Intestinal malrotation, Glycosuria, Diabetes mellitus, Hypergly... |
OMIM:600001 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... |
OMIM:300048 |
Visceral Myopathy 1 |
|
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc... |
OMIM:155310 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Microvillus inclusions... |
OMIM:619445 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Aplasia/Hypoplasia of metatarsal bones, Disproportionate short-limb short stature, Flared metaphy... |
ORPHA:2502 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... |
ORPHA:79644 |
Bangstad Syndrome |
|
Hyperinsulinemia, Short stature, Hypothyroidism, Deviation of finger, Primary gonadal insufficien... |
ORPHA:1227 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Acute kidney injury, Chronic kidney disease, Hemosiderinuria, Glycosuria, Hemoglobinuria, Esophag... |
ORPHA:447 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Growth d... |
OMIM:600081 |
Porphyria Variegata |
|
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Neurogenic bladder... |
ORPHA:79473 |
Hereditary Xanthinuria |
|
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... |
ORPHA:3467 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... |
OMIM:241530 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... |
ORPHA:280356 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia, Eleva... |
OMIM:201910 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, De... |
OMIM:614736 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Colorectal polyposis, Multiple in... |
ORPHA:251992 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Uric acid nephrolithias... |
ORPHA:411536 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short stature, Hyperinsulinemia, Short 5th metacarpal |
ORPHA:66518 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, V... |
OMIM:617872 |
Mungan Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis, Vesicoureteral reflux, Barrett esophagus, Renal hyp... |
OMIM:611376 |
Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... |
OMIM:220150 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Fibular b... |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Fibular b... |
OMIM:277440 |
Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Gastrointestinal hemorrhage, Enlarged kidney, Melena,... |
OMIM:276700 |
Estrogen Resistance Syndrome |
|
Osteopenia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating horm... |
ORPHA:785 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper... |
ORPHA:75508 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Microvillus Inclusion Disease |
|
Diarrhea, Abnormal small intestinal villus morphology, Nephrocalcinosis, Abnormal renal physiolog... |
ORPHA:2290 |
Small Bowel Atresia |
|
Intestinal malrotation, Intestinal hypoplasia, Vomiting, Jejunal atresia |
ORPHA:1201 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... |
OMIM:615962 |
Alg6-Cdg |
|
Increased circulating androgen concentration, Protein-losing enteropathy, Puberty and gonadal dis... |
ORPHA:79320 |
Atypical Werner Syndrome |
|
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Renal neoplasm, Neoplasm of the... |
ORPHA:79474 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma,... |
OMIM:131100 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology |
ORPHA:100025 |
Cog8-Cdg |
|
Hypoglycemia, Protein-losing enteropathy |
ORPHA:95428 |
Vascular Hyalinosis |
|
Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Lymphoid nodular hyperplasia, Thyroid carcinoma, Intestinal polyposis, Penile freckling, Hurthle ... |
ORPHA:210548 |
Acute Intermittent Porphyria |
|
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... |
ORPHA:79276 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macroscopic hematur... |
ORPHA:79233 |
Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... |
ORPHA:92050 |
Systemic Sclerosis |
|
Abnormality of the kidney, Acute kidney injury, Abnormality of the gastrointestinal tract, Gastro... |
ORPHA:90291 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... |
OMIM:604367 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
Glucocorticoid Deficiency 2 |
|
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... |
OMIM:607398 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Dicarboxylic aciduria, Diarrhea, Elevated urinary 3-hydroxybutyric acid, Vomiting, H... |
OMIM:605911 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia, Small for gest... |
ORPHA:79237 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
Scorpion Envenomation |
|
Acute kidney injury, Diarrhea, Vomiting, Glycosuria, Hyperglycemia, Ketonuria |
ORPHA:466677 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Precocious puberty in females, Bone cyst, Failure to thrive, Large hands, Insul... |
ORPHA:528 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Intestinal malrotation, Vomiting, Colonic d... |
OMIM:243180 |
Donohue Syndrome |
|
Postnatal growth retardation, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, P... |
OMIM:246200 |
Serkal Syndrome |
|
Abnormality of the adrenal glands, Hypospadias, Hypoplasia of the bladder, Renal agenesis, Malrot... |
ORPHA:139466 |
Mandibuloacral Dysplasia |
|
Postnatal growth retardation, Hyperinsulinemia, Abnormal tongue morphology, Short clavicles, Oste... |
ORPHA:2457 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... |
OMIM:300554 |
Reni Syndrome |
|
Hypoglycemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephrotic syn... |
OMIM:617575 |
Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Perlman Syndrome |
|
Nephroblastoma, High, narrow palate, Hyperinsulinemia, Hypoplasia of penis |
ORPHA:2849 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, High p... |
OMIM:608612 |
Chylomicron Retention Disease |
|
Diarrhea, Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting |
OMIM:246700 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:250220 |
Eosinophilic Gastroenteritis |
|
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Vom... |
ORPHA:2070 |
Solitary Rectal Ulcer Syndrome |
|
Intermittent diarrhea, Rectal prolapse, Anal fissure, Bloody diarrhea, Hematochezia, Stercoral ul... |
ORPHA:209964 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abnormal gastric mucosa morphology, Constipati... |
ORPHA:263665 |
Prader-Willi Syndrome |
|
Delayed puberty, Radial deviation of finger, Syndactyly, Intrauterine growth retardation, Clinoda... |
OMIM:176270 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the upper urinary tr... |
ORPHA:2547 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit... |
OMIM:248250 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Postnatal growth retardation, Rickets, Elevated circulating parathyroid hormone level, Delayed ep... |
ORPHA:289157 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Postnatal growth retardation, Osteopenia, Hyperinsulinemia, Short clavicles, Osteolytic defects o... |
OMIM:248370 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Hypothyroidism, Vomiting, Decreased circulating T4 concentr... |
OMIM:608104 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthinuria, Decreased urinary sulfate, Increased urinary taurine, Decreased urinary urate, Incre... |
OMIM:252150 |
Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Nephrolithiasis, Renal insufficiency |
OMIM:300323 |
Hypoadrenocorticism, Familial |
|
Vomiting, Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Scedosporiosis |
|
Abnormal renal morphology, Diabetes mellitus, Abnormal jejunum morphology |
ORPHA:449280 |
Trigonocephaly 1 |
|
Meckel diverticulum, High, narrow palate, Long penis |
OMIM:190440 |
Bartter Syndrome, Type 1, Antenatal |
|
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ... |
OMIM:601678 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Hypothyroidism... |
OMIM:618440 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hyperinsulinemia, Osteoporosis, Pyloric stenosis, Failure to thrive, Dysphagia, Insul... |
OMIM:613327 |
Rabson-Mendenhall Syndrome |
|
Polydactyly, Polydipsia, Increased circulating androgen concentration, Increased serum testostero... |
ORPHA:769 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel... |
ORPHA:913 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea, Fat malabsorption |
ORPHA:309108 |
Immunodeficiency 31C |
|
Delayed puberty, Protein-losing enteropathy, Diarrhea, Gastrointestinal eosinophilia, Hypothyroid... |
OMIM:614162 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Elevated urinary 7-hydroxyoctanoic acid level, Vomiting, Hypoglycemia, Medium ch... |
OMIM:201450 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypercalciuria, Impaired renal c... |
ORPHA:89938 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Protein-losing enteropa... |
OMIM:618183 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Uric acid nephrolithiasis, Crystalluria, Hyperuricosuria |
ORPHA:411543 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Di... |
ORPHA:71212 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Chronic diarrhea, Hypothyroidism, Type I diabetes mellitus, Ileus, Glomeruloneph... |
OMIM:304790 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Glossitis, Diarrhea, Hamartomatous polyposis, Vomiting, Hematochezia,... |
OMIM:175500 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption |
OMIM:607748 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Duodenitis, Bloody diarrhea, Villous atrophy |
OMIM:614328 |
Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... |
OMIM:616113 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Vomiting, Nephrocalcinosis, Dysphagia, Hyperuricosuria, Testicular atrophy |
OMIM:300322 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Diarrhea, Elevated urinary dopamine level, Vomiting, Nocturia, Insulin resistan... |
ORPHA:230 |
Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Aganglionic megacolon, Diarrhea, Pheochromocytoma, Elevated urinary epinephr... |
OMIM:162300 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Patellar hypoplasia, Meta... |
ORPHA:221008 |
Pituitary Stalk Interruption Syndrome |
|
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... |
ORPHA:95496 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Colonic diverticula, Renal insufficiency |
OMIM:173900 |
Cat Eye Syndrome |
|
Rectal fistula, Anal stenosis, Meckel diverticulum, Vesicoureteral reflux, Anal atresia, Intestin... |
OMIM:115470 |
Martinez-Frias Syndrome |
|
Hypospadias, Intestinal hypoplasia, Tracheoesophageal fistula, Intestinal malrotation, Jejunal at... |
OMIM:601346 |
Glycogen Storage Disease Ia |
|
Delayed puberty, Intermittent diarrhea, Enlarged kidney, Decreased glomerular filtration rate, Fa... |
OMIM:232200 |
Bartter Syndrome, Type 2, Antenatal |
|
Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ... |
OMIM:241200 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Rectal prolapse, Acute colitis, Diarrhea, Anuria, Intestinal perforation, Bl... |
ORPHA:90038 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Diarrhea, ... |
ORPHA:70475 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis |
OMIM:616744 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
Leprechaunism |
|
Postnatal growth retardation, Rectal prolapse, Hyperinsulinemia, Fasting hypoglycemia, Severe int... |
ORPHA:508 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Glycogen Storage Disease Ic |
|
Delayed puberty, Hematuria, Decreased glomerular filtration rate, Stomatitis, Hepatocellular carc... |
OMIM:232240 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Ketonuria, Elevated urine acetoacetic acid level, Episodic vomiting, Hypoglycemia, Elevated urine... |
OMIM:615751 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short finger, Hip subluxation, Disproportionate short-limb short stature, Epiphyseal stippling, F... |
OMIM:271665 |
Refractory Celiac Disease |
|
Chronic diarrhea, Protein-losing enteropathy, Jejunitis, Villous atrophy |
ORPHA:398063 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Aganglionic megacolon, Abnormal metaphysis morphology, Long fibula |
ORPHA:935 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Aplasia/hypoplasia involv... |
ORPHA:221016 |
Addison Disease |
|
Renal salt wasting, Delayed puberty, Hypoparathyroidism, Diarrhea, Adrenal hypoplasia, Androgen i... |
ORPHA:85138 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Villous atrophy |
OMIM:614602 |
Colonic Atresia |
|
Peptic ulcer, Duodenal stenosis, Colonic atresia |
ORPHA:1198 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthinuria, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine l... |
OMIM:252160 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Secretory diarrhea, Episodic vomiting, Villous atrophy |
OMIM:616050 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypercalciuria, Abnormal renal tubular resorption, Hypermagnesiuria, Neph... |
ORPHA:73224 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Metaphyseal chond... |
ORPHA:93317 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Thyroiditis, Colitis, Chronic diarrhea, Hypothyroidism, Inflammation of the large intestine, Atro... |
OMIM:614700 |
Glycogen Storage Disease Ib |
|
Delayed puberty, Enlarged kidney, Decreased glomerular filtration rate, Hepatocellular carcinoma,... |
OMIM:232220 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Ectopic ... |
OMIM:235510 |
Fg Syndrome Type 1 |
|
Hypospadias, Gastroesophageal reflux, Small pituitary gland, High palate, Anal atresia, Abnormal ... |
ORPHA:93932 |
Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Episodic vomiting, Ileoileal intussusception, Secretory diarrh... |
OMIM:619377 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... |
ORPHA:79076 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... |
OMIM:610442 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Purine Nucleoside Phosphorylase Deficiency |
|
Unusual gastrointestinal infection, Decreased urinary urate |
ORPHA:760 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, In... |
ORPHA:99413 |
Turner Syndrome |
|
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, In... |
ORPHA:881 |
Mosaic Monosomy X |
|
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, In... |
ORPHA:99228 |
Monosomy X |
|
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, In... |
ORPHA:99226 |
Florid Cemento-Osseous Dysplasia |
|
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology |
ORPHA:83451 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Thyroid carcinoma, Intestinal polyposis, Neoplasm of the adrenal cortex, Hamartoma... |
ORPHA:109 |
Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Hypercalciuria, Chronic diarrhea, Vomiting, 3-Methylglutaric aciduria, Exocrine panc... |
OMIM:557000 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, High palate, Cleft palate, Hydronephrosis, Micropenis, Thyroid lympha... |
OMIM:235255 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Gastrointestinal atresia, Rectal abscess, Bloody diarrhea, Hypoplasia of the thymus, Intestinal m... |
ORPHA:436252 |
Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Diarrhea, Vomiting, Enterocolitis, D... |
ORPHA:73263 |
Perlman Syndrome |
|
Distal ileal atresia, Nephroblastomatosis, Renal hamartoma, Volvulus, Nephrogenic rest, Nephrobla... |
OMIM:267000 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Thyroiditis, Chronic diarrhea, Hypothyroidism, Type I diabetes mellitus, Villous atrophy |
OMIM:606367 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Thyroiditis, Diarrh... |
ORPHA:391487 |
Alstrom Syndrome |
|
Polydactyly, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes in... |
OMIM:203800 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Steatorrhea, Fat malabsorption, Dark urine, Renal cyst |
ORPHA:79303 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Proteinuria, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Diarrhea, Neurogenic bladder, Type I diabetes mellitus, Fat malabsorption |
ORPHA:96180 |
Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Villous atrophy, Protracted diarrhea, Colitis |
OMIM:209920 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malrotation, Volvulus,... |
ORPHA:210122 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Neoplasm of the gallbladder, Bowel incontinence, Abnormal duodenum morpholo... |
ORPHA:512 |
Purine Nucleoside Phosphorylase Deficiency |
|
Elevated urinary guanosine level, Recurrent urinary tract infections, Decreased urinary urate, El... |
OMIM:613179 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Acholic stools, Diarrhea, Steatorrhea, Fat malabsorption |
OMIM:607765 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Elevated urinary prostaglandin E2 level, Secretory diarrhea |
OMIM:167100 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Diarrhea, Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism, Nephroti... |
OMIM:212065 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Reduced bone mineral density, Metaphyseal striations, Aplasia... |
ORPHA:2909 |
Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Gastrointestinal hemorrhage, Protein-losing enteropathy, Enlarged kidney, Re... |
ORPHA:731 |
Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Adrenal hyperplasia, Precocious puberty, Decreas... |
ORPHA:786 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Polyphagia, Large hands, D... |
OMIM:608594 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypospadias, Renal insufficiency, High palate, Uric acid nephrolithiasis, Urolithiasis, Hyperuric... |
OMIM:300661 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy, Stomach cancer, Diarrhea, Hamartomatous ... |
ORPHA:2929 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Duodenal stenosis, Horseshoe kidney, Vesicoureteral reflux |
ORPHA:2470 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Gastroesophagea... |
OMIM:620185 |
Chylomicron Retention Disease |
|
Diarrhea, Steatorrhea, Fat malabsorption, Vomiting |
ORPHA:71 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Nephrolithiasis, Functional abnormality of the bladder, Constipation, Cleft palate, ... |
ORPHA:2953 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Abnormal renal morphology, High palate, Hydronephrosis, Micropenis |
ORPHA:1655 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Maternal diabetes, Hypospadias, Meckel diverticulum, A... |
ORPHA:1708 |
Tarp Syndrome |
|
Meckel diverticulum, High palate, Glossoptosis, Cleft palate, Hydronephrosis, Tongue nodules, Hor... |
OMIM:311900 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Chronic diarrh... |
ORPHA:90362 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal ... |
ORPHA:141127 |
Immunodeficiency 85 And Autoimmunity |
|
Vomiting, Chronic diarrhea, Villous atrophy |
OMIM:619510 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline... |
ORPHA:3464 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea, Fat malabsorption |
OMIM:211600 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Pyloric stenosis |
OMIM:616395 |
Non-Acquired Panhypopituitarism |
|
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:90695 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum leptin, Polyphagia, Large hands, T... |
OMIM:269700 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplasia of the small intestine, Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon |
OMIM:200995 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin-resistant diabetes mellitus |
OMIM:151660 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Hydroureter, Esophageal atresia, Hypospadias, Meckel diverticulum, Dilatation of the bladder, Con... |
OMIM:265380 |
Fanconi Anemia |
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Aganglionic megacolon, Hydroureter, Hypospadias, Abnormal preputium morphology, Aplasia/Hypoplasi... |
ORPHA:84 |
Isolated Biliary Atresia |
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Hypothyroidism, Acholic stools, Dark yellow urine, Hypopituitarism, Fat malabsorption |
ORPHA:30391 |
Autosomal Recessive Cutis Laxa Type 1 |
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Multiple bladder diverticula, Recurrent urinary tract infections, Vesicoureteral reflux, Urethral... |
ORPHA:90349 |
Tarp Syndrome |
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Glossoptosis, Cleft palate, Hydronephrosis, Abnormal duodenum morphology, Tongue nodules, Horsesh... |
ORPHA:2886 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hematochezia, Fat malabsorption |
OMIM:214950 |
Fryns Syndrome |
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Aganglionic megacolon, Ureteral duplication, Esophageal atresia, Hypospadias, Meckel diverticulum... |
OMIM:229850 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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High palate, Intestinal malrotation, Nephrotic syndrome, Constipation, Cleft palate, Hydronephros... |
OMIM:601776 |
Meier-Gorlin Syndrome 7 |
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Meconium peritonitis, Anal stenosis, Hypospadias, Vesicoureteral reflux, High palate, Anal atresi... |
OMIM:617063 |
Steinert Myotonic Dystrophy |
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Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... |
ORPHA:273 |
Syndromic Diarrhea |
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Intractable diarrhea, Gastritis, Polycystic kidney dysplasia, Colitis, Bloody diarrhea, Hypoplasi... |
ORPHA:84064 |
Fraser Syndrome 1 |
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Renal hypoplasia/aplasia, Hypospadias, Renal hypoplasia, Cleft palate, Abnormal thymus morphology... |
OMIM:219000 |
Liver Disease, Severe Congenital |
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Protein-losing enteropathy, Hypospadias, Diarrhea, Recurrent urinary tract infections, Chronic ga... |
OMIM:619991 |
Whim Syndrome |
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Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Osteopetrosis, Autosomal Recessive 7 |
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Growth delay, Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Trisomy 8P |
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Constipation, Bifid uvula, Nephrocalcinosis, Cleft palate, Hydronephrosis, Fetal pyelectasis, Mal... |
ORPHA:264450 |
Thrombocytopenia-Absent Radius Syndrome |
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Ureteral duplication, Meckel diverticulum, Vesicoureteral reflux, Dilatation of the renal pelvis,... |
OMIM:274000 |
Genitopatellar Syndrome |
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Anal stenosis, Multicystic kidney dysplasia, Anal atresia, Hypothyroidism, Hydronephrosis, Dyspha... |
OMIM:606170 |
Autosomal Dominant Cutis Laxa |
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Unilateral renal agenesis, Vomiting, Small bowel diverticula, Bladder diverticulum, Pyelonephritis |
ORPHA:90348 |
Viss Syndrome |
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High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, Chronic diarr... |
OMIM:619472 |
Immunodeficiency 82 With Systemic Inflammation |
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Duodenal ulcer, Intractable diarrhea, Villous atrophy, Gastritis, Anoperineal fistula, Diarrhea, ... |
OMIM:619381 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Narrow palate, Enlarged kidney, Hypospadias, Meckel diverticulum, Exaggerated median tongue furro... |
OMIM:312870 |
Plague |
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Hematemesis, Glossitis, Diarrhea, Bloody diarrhea, Vomiting, Inflammation of the large intestine,... |
ORPHA:707 |
Glucose-Galactose Malabsorption |
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Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Osmotic diarrhea, Renal insufficiency |
ORPHA:35710 |
Alström Syndrome |
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Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Recurrent cystitis, ... |
ORPHA:64 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Gastroesophageal reflux, Precocious puberty, Cleft palate, Malrotation of small bowel |
OMIM:194190 |
Pmm2-Cdg |
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Elevated circulating thyroid-stimulating hormone concentration, Osteopenia, Hyperinsulinemia, Hig... |
ORPHA:79318 |