Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Obesity |
ORPHA:99976 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los... |
ORPHA:2198 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Obesity, Micropenis |
ORPHA:85274 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Obesity |
OMIM:615983 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Large for gestational age |
ORPHA:2432 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Colon cancer, Obesity, Malabsorption |
OMIM:300310 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Failure to thrive, Jejunal atresia, Intestinal malrotation |
ORPHA:1201 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis |
OMIM:619431 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight |
ORPHA:890 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Weight loss, Hematochezia,... |
ORPHA:2070 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Chylomicron Retention Disease |
|
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Steatorrhea, Failu... |
OMIM:602579 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Renal cyst |
OMIM:615982 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Abcd Syndrome |
|
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis |
OMIM:600501 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Renal hypoplasia, Vesicoureter... |
OMIM:611376 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity |
OMIM:615985 |
Biemond Syndrome Type 2 |
|
Hypospadias, Obesity |
ORPHA:141333 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... |
OMIM:155310 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Obesity |
OMIM:614962 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Proteinuria, Chronic kidney disease, Obesity, Vesicoureteral reflux |
ORPHA:261222 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Increased body weight |
OMIM:614450 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Horseshoe kidney |
OMIM:617406 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... |
ORPHA:2241 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Nephrotic syndrome, Renal insufficiency, Protein-losin... |
ORPHA:79327 |
Alg6-Cdg |
|
Macroglossia, Failure to thrive, Protein-losing enteropathy |
ORPHA:79320 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... |
ORPHA:2290 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Obesity |
OMIM:600151 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Gastroesophageal reflux, Increased body weight |
ORPHA:589905 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Megacystis, Microcolon |
OMIM:619362 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Increased body weight |
ORPHA:94086 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Failure to thrive, Protein-losing enteropathy |
ORPHA:79319 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Laurence-Moon Syndrome |
|
Micropenis, Obesity |
OMIM:245800 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Failure to thrive, Hepatocellular carcinoma |
OMIM:601847 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Failure to thrive, Acholic stools, Steatorrhea |
OMIM:607765 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Abdominal obesity, Increased body weight |
OMIM:615954 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight |
ORPHA:276608 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity |
OMIM:616629 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypospadias |
ORPHA:139466 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:79303 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Micropenis, Increased body weight, Horseshoe kidney |
OMIM:300860 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Horseshoe ki... |
OMIM:115470 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ... |
ORPHA:79076 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Failure to thrive |
OMIM:211600 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Renal insufficiency, Hypospadias, Obesity |
OMIM:194072 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Protein-losing enteropathy |
OMIM:608104 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Failure to thrive |
OMIM:214950 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalciuria, Macroglossia, Mucopolysacchariduria, Protein-losing en... |
OMIM:618440 |
Mody |
|
Large for gestational age, Overweight, Hepatocellular adenoma, Renal cyst, Obesity, Glycosuria, N... |
ORPHA:552 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Aminoaciduria, High palate, Failure to thrive |
OMIM:614520 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon |
OMIM:609313 |
Chylomicron Retention Disease |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
ORPHA:71 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Increased body weight |
OMIM:182290 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Glycosuria |
ORPHA:263455 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroe... |
ORPHA:93932 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Large for gestational age, Nephrocalcinosis, Aminoaciduria, Glyco... |
OMIM:616026 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Megacystis, Pyelonephritis, Microcolon |
OMIM:619351 |
Insulinoma |
|
Zollinger-Ellison syndrome, Increased body weight |
ORPHA:97279 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Mec... |
OMIM:311900 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Obesity, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux, Hydro... |
OMIM:615926 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Narrow palate, Horseshoe kidney, Protein-losing enteropathy, Ves... |
OMIM:235510 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Esophageal varix, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis, Myoglobi... |
ORPHA:264580 |
Sotos Syndrome |
|
High, narrow palate, Increased body weight, Narrow palate, High palate, Gastroesophageal reflux, ... |
OMIM:117550 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity |
OMIM:615989 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cleft palate, High palate, Protein-losing enteropathy, Micropenis, Hydronephrosis |
OMIM:235255 |
Isolated Biliary Atresia |
|
Small for gestational age, Dark yellow urine, Acholic stools, Severe failure to thrive, Fat malab... |
ORPHA:30391 |
Immunodeficiency 31C |
|
Villous atrophy, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussus... |
OMIM:614162 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Neoplasm of the liver, Obesity, Hepatocellular carcinoma |
ORPHA:69663 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight, Hepatocellular adenoma, Renal tubular acidosis, Hepatocellular carcinoma, ... |
ORPHA:79240 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenum morphology, To... |
ORPHA:2886 |
Perlman Syndrome |
|
Distal ileal atresia, Volvulus, Renal hamartoma, Large for gestational age |
OMIM:267000 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Fryns Syndrome |
|
Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Large for gesta... |
OMIM:229850 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Dextrocardia |
|
Meckel diverticulum, Abnormality of the ureter, Intestinal malrotation |
ORPHA:1666 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno... |
ORPHA:141127 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... |
ORPHA:109 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Glycosuria, Colon perforation, Failure to thrive, M... |
OMIM:600001 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hydronephrosis, Micropenis, High palate, Protein-losing enteropathy |
ORPHA:1655 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight... |
ORPHA:1501 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Increased body weight, Abdominal obesity, Gastroesophageal reflux, Micropenis, Failur... |
ORPHA:398069 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Hypospadias, Small for gestational age, Horseshoe kidn... |
ORPHA:1708 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum... |
ORPHA:512 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Joubert Syndrome 39 |
|
Overweight, Polycystic kidney dysplasia |
OMIM:619562 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Increased body weight, Nephrolithiasis, Abdominal obesity |
ORPHA:189427 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Ileus, Aganglionic megacolon, Microcolon |
ORPHA:163746 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Reduced renal corticomedullary differentiation, ... |
ORPHA:731 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormality of body weight, Increased body weight, Weight loss, Glycosuria, Abnormal... |
ORPHA:2298 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, ... |
OMIM:265380 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Protein-losing enteropathy, Polyuria |
OMIM:618183 |
Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight |
ORPHA:244242 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia, Cleft palate, Micropenis, Abn... |
OMIM:219000 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cleft palate, Nephrotic syndrome, High palate, Abnormal du... |
OMIM:601776 |
Restrictive Dermopathy |
|
Ureteral duplication, Submucous cleft hard palate, Hypospadias, Microcolon |
ORPHA:1662 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Increased body weight, Neoplasm of the rectum, Abdo... |
ORPHA:1359 |
Cushing Disease |
|
Increased urinary cortisol level, Truncal obesity, Abdominal obesity, Increased body weight |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Neoplasm of the stomac... |
ORPHA:99889 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Hypospadias, Aminoaciduria, Protein-losing enteropathy, Alpha-aminobutyric aci... |
OMIM:619991 |