| Congenital Pancreatic Cyst |
|
Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice |
ORPHA:313906 |
| Volvulus Of Midgut |
|
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... |
OMIM:193250 |
| High-Grade Dysplasia In Patients With Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction |
ORPHA:231080 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention |
OMIM:616868 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Intestinal m... |
OMIM:619350 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Malabsorption, Abnormal small intestinal mucosa morphology, Nausea, Abdominal distentio... |
ORPHA:103907 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... |
ORPHA:26790 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the ovary, Abnormality of the spleen, Abnormality of ... |
ORPHA:543 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... |
ORPHA:2924 |
| Hirschsprung Disease |
|
Diarrhea, Functional abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal p... |
ORPHA:388 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... |
ORPHA:35122 |
| Small Bowel Atresia |
|
Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F... |
ORPHA:1201 |
| Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain |
ORPHA:168829 |
| Wolman Disease |
|
Vomiting, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly |
OMIM:620151 |
| Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... |
OMIM:619445 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Nausea and vomiting... |
ORPHA:44890 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... |
OMIM:615237 |
| Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, High pal... |
OMIM:620045 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... |
ORPHA:131 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Pancre... |
ORPHA:2869 |
| Primary Effusion Lymphoma |
|
Abdominal pain, Abnormal peritoneum morphology, Abdominal distention |
ORPHA:48686 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... |
ORPHA:160148 |
| Mitchell-Riley Syndrome |
|
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C... |
OMIM:615710 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Constipation, Dysphagia, Intestinal obstruction |
OMIM:606764 |
| Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Peritonitis, Ileus, Abdominal distention |
ORPHA:168811 |
| Adiposis Dolorosa |
|
Constipation, Abdominal distention |
OMIM:103200 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Malnutrition, Cholestasis, Malabsorption, Villous atrophy, Abnormal... |
ORPHA:95427 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Desmoid... |
ORPHA:873 |
| Ppoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97278 |
| Inflammatory Pseudotumor Of The Liver |
|
Vomiting, Biliary tract abnormality, Nausea, Neoplasm of the liver, Cirrhosis, Abdominal distenti... |
ORPHA:90003 |
| Radiation Proctitis |
|
Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p... |
ORPHA:70475 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai... |
ORPHA:97286 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Abdominal situs inversus, Abnormal mesentery morphology, Duodenal ... |
ORPHA:1198 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... |
OMIM:613662 |
| Desmoplastic Small Round Cell Tumor |
|
Abdominal distention, Ileus, Nausea and vomiting, Testicular neoplasm, Abnormal peritoneum morpho... |
ORPHA:83469 |
| Visceral Myopathy 1 |
|
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... |
OMIM:155310 |
| Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Constipation, Abdom... |
ORPHA:897 |
| Grfoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97261 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
| Somatostatinoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97283 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... |
OMIM:277320 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Abdominal distention |
OMIM:174050 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Interface... |
OMIM:243150 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention |
OMIM:606824 |
| Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... |
ORPHA:1876 |
| Wolman Disease |
|
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Abdominal distention, Hepatomeg... |
ORPHA:75233 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... |
OMIM:226300 |
| Pancreatoblastoma |
|
Vomiting, Diarrhea, Pancreatic calcification, Abdominal pain, Abdominal distention, Jaundice |
ORPHA:677 |
| Athyreosis |
|
Macroglossia, Constipation, Feeding difficulties, Abdominal distention |
ORPHA:95713 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Cirrhosis, Sma... |
ORPHA:298 |
| Glucagonoma |
|
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... |
ORPHA:97280 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Peritonitis, Constipation, Abdominal distention |
ORPHA:168816 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... |
ORPHA:343 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... |
OMIM:300048 |
| Infantile Myofibromatosis |
|
Abnormal intestine morphology, Tracheoesophageal fistula, Neoplasm of the pancreas, Intestinal ob... |
ORPHA:2591 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Peritonitis, Mesenteric cyst, Abdominal distention, Ab... |
ORPHA:314473 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
| Neuroendocrine Neoplasm Of Appendix |
|
Adenocarcinoma of the colon, Intestinal carcinoid, Abdominal colic, Protracted diarrhea, Hypoacti... |
ORPHA:100079 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... |
ORPHA:85450 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... |
ORPHA:92050 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Gastrointestinal dysmotilit... |
ORPHA:67 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Abdominal distention |
ORPHA:103910 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Increased hepatic glycogen content, Cirrhosis, Abdominal diste... |
ORPHA:369 |
| Mirizzi Syndrome |
|
Cholelithiasis, Vomiting, Abdominal distention, Abdominal colic, Anorexia, Nausea, Abdominal pain... |
ORPHA:521219 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Diarrhea, Abnormal fear-induced behavior, Increased fecal coproporphyrin 3, Nausea, Constipation,... |
ORPHA:100924 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Abdominal distention, Abdominal pain, Dysgerminoma |
ORPHA:206484 |
| 46,Xy Sex Reversal 11 |
|
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Hematochezia, Pitu... |
ORPHA:913 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Cholestasis, Cryptorchi... |
OMIM:608104 |
| Secondary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,... |
ORPHA:90363 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Recurrent infection of the gastrointestinal tract, Nausea, Abdominal distention, Abdomi... |
ORPHA:51890 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
| X-Linked Creatine Transporter Deficiency |
|
Ileus, Self-mutilation, Aganglionic megacolon, Constipation, Hyperactivity |
ORPHA:52503 |
| Achondrogenesis, Type Ib |
|
Stillbirth, Abdominal distention |
OMIM:600972 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Goiter, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdominal distention,... |
ORPHA:226313 |
| Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Hepatic steatosis, Abdominal distention, Steatorrhea, Fat malabsorption, Incr... |
ORPHA:71 |
| Acrocephalopolydactyly |
|
Hepatosplenomegaly, Protuberant abdomen |
ORPHA:221054 |
| Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnormality of the gastrointestinal ... |
ORPHA:160 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Cryptorchidism, Chronic constipation, Abdominal distention |
ORPHA:3010 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Abdominal distention, Cholecystitis, Intermittent jaundice, Biliary tract... |
ORPHA:100086 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Intestinal obstruction, Abdominal pa... |
ORPHA:183 |
| Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Abdominal distention, Jaundice, Fulminant h... |
OMIM:215600 |
| Igg4-Related Aortitis |
|
Abdominal pain, Intestinal obstruction |
ORPHA:449400 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea, Abdominal distention |
ORPHA:2290 |
| Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention, Jaundice, Thyroid hypoplasia |
ORPHA:95720 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Depletion of mitochondrial DNA in liver, Cholestasis, Fulminant hepatic failure, Microvesicular h... |
OMIM:618528 |
| Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention |
ORPHA:35710 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Insulin insensitivity, Bifid scrotum, Bilateral cryptorchidism, Azoospermia... |
ORPHA:90797 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Protuberant abdomen, Abdominal distention |
OMIM:277300 |
| Porphyria, Acute Intermittent |
|
Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain, Hepatocellular carcinoma |
OMIM:176000 |
| Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Polycystic ovaries, Hypoplasia of the uterus, Impaired glu... |
OMIM:615363 |
| Familial Mediterranean Fever |
|
Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, N... |
ORPHA:342 |
| Meconium Ileus |
|
Microcolon, Chronic diarrhea, Meconium ileus |
OMIM:614665 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Abdominal distention |
OMIM:619365 |
| Liver Failure, Infantile, Transient |
|
Vomiting, Acute hepatic failure, Microvesicular hepatic steatosis, Feeding difficulties in infanc... |
OMIM:613070 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Microcolon, Abdominal distention |
OMIM:619362 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Diarrhea, Hepatic failure, Incr... |
OMIM:278000 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Ovarian fibroma, Peritonitis, Abdominal distention, Abdominal pain |
ORPHA:314478 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Abnormality of the gastr... |
ORPHA:2241 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Vomiting, Ileus, Aggressive behavior, Attention deficit hyperactivity disorder, Feeding difficult... |
OMIM:300352 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Shigellosis |
|
Hepatic failure, Vomiting, Tenesmus, Ulcerative colitis, Cholestasis, Acute colitis, Paralytic il... |
ORPHA:810 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer |
ORPHA:145 |
| Cystic Fibrosis |
|
Biliary cirrhosis, Diarrhea, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal... |
OMIM:219700 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... |
OMIM:270420 |
| Waardenburg Syndrome |
|
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia... |
ORPHA:3440 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Cryptorchidism, Intestinal obstruction |
ORPHA:2323 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... |
ORPHA:2470 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Diarrhea, Abdominal distention, Anorexia, Hepatic cysts, Intermittent jaundice, Biliary tract obs... |
ORPHA:100085 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio... |
ORPHA:1666 |
| Acute Intermittent Porphyria |
|
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... |
ORPHA:79276 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Paralytic ileus, Dysphagia |
OMIM:613559 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Nausea and vomiting, Ovarian cyst, Enlarged polycystic ovaries, Nausea,... |
ORPHA:64739 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Splenomegaly, Hepatic steatosis, Constipation, Hepatomegaly, Dysphagia, Feeding difficulti... |
OMIM:613327 |
| Trichothiodystrophy 1, Photosensitive |
|
Malabsorption, Chronic diarrhea, Intestinal obstruction |
OMIM:601675 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Abdominal distention, Nausea and vomiting, Episodic abdominal pain, Pancreatitis, Anorexia, Jaund... |
ORPHA:370348 |
| Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
| Polyembryoma |
|
Abdominal pain, Macroorchidism, Abnormal peritoneum morphology, Abdominal distention |
ORPHA:180229 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Meckel Syndrome, Type 8 |
|
Cleft palate, Abdominal distention |
OMIM:613885 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
| Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Hypoactive bowel sounds, Peritonitis, Abdominal rigidity, Abdominal distentio... |
ORPHA:391673 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Diarrhea, Vomiting, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Constipation, Ab... |
ORPHA:32960 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Chronic diarrhea, Hepatitis, Ileus |
OMIM:304790 |
| Tropical Pancreatitis |
|
Vomiting, Malnutrition, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic ca... |
ORPHA:103918 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal... |
OMIM:167800 |
| Achondrogenesis Type 1A |
|
Abdominal distention |
ORPHA:93299 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
| Hereditary Fructose Intolerance |
|
Diarrhea, Vomiting, Nausea, Abdominal pain, Chronic hepatic failure, Constipation, Abdominal dist... |
ORPHA:469 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
| Porphyria Variegata |
|
Abnormality of the liver, Ileus, Nausea, Constipation, Abdominal pain, Hepatocellular carcinoma |
ORPHA:79473 |
| Thyroid Hemiagenesis |
|
Hyperparathyroidism, Macroglossia, Constipation, Abdominal distention, Jaundice |
ORPHA:95719 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Niemann-Pick Disease, Type A |
|
Vomiting, Splenomegaly, Hepatomegaly, Feeding difficulties in infancy, Constipation, Protuberant ... |
OMIM:257200 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Jejunoileal ulceration, Rectal abscess, Intestinal malrotation, Hy... |
ORPHA:436252 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the liver, Abnormality of ... |
ORPHA:85443 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Splenomegaly, Cryptorch... |
OMIM:235255 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Lead Poisoning |
|
Vomiting, Anorexia, Nausea, Attention deficit hyperactivity disorder, Constipation, Abdominal dis... |
ORPHA:330015 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Paralytic ileus, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy |
ORPHA:254930 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Donohue Syndrome |
|
Hepatic fibrosis, Cholestasis, Pancreatic islet-cell hyperplasia, Ovarian cyst, Abdominal distention |
OMIM:246200 |
| Thyroid Ectopia |
|
Macroglossia, Lingual thyroid, Constipation, Abdominal distention, Jaundice, Dysphagia, Ectopic t... |
ORPHA:95712 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Stomatitis, Abdominal distention |
OMIM:246400 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Chronic diarrhea, Intestinal obstruction |
OMIM:600802 |
| Mody |
|
Exocrine pancreatic insufficiency, Hepatocellular adenoma, Pancreatic hypoplasia |
ORPHA:552 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Gastroesophageal reflux, Feeding difficulties, Abdominal distention |
OMIM:620275 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Por... |
ORPHA:186 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Steatorrhea, Abdomina... |
ORPHA:309031 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, Ad... |
ORPHA:300373 |
| Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Vomiting, Secretory diarrhea, Hepatitis, Nasogastric tube feeding, Malabsorption, Ileus, Splenome... |
ORPHA:37042 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... |
ORPHA:456312 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, He... |
ORPHA:275761 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia, Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of... |
ORPHA:93111 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Abdominal distention |
OMIM:619423 |
| Sepsis In Premature Infants |
|
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... |
ORPHA:90051 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Spl... |
ORPHA:1655 |
| Alternating Hemiplegia Of Childhood |
|
Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Aggressive behavior, Gastroi... |
ORPHA:2131 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Lactose intolerance, Hyperactivity, Protuberant abdomen, Intestinal polyp |
ORPHA:457485 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Abdominal situs inversus, Aganglionic megacolon, Abdominal distention, Cleft... |
ORPHA:2604 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, High palate, Ileus |
OMIM:620156 |
| Poliomyelitis |
|
Vomiting, Paralytic ileus, Anorexia, Nausea, Dysphagia, Agitation |
ORPHA:2912 |
| Sialuria |
|
Splenomegaly, Hypoplastic nipples, Attention deficit hyperactivity disorder, Protuberant abdomen,... |
OMIM:269921 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Diarrhea, Vomiting, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis... |
OMIM:256810 |
| Celiac Disease, Susceptibility To, 1 |
|
Vomiting, Diarrhea, Celiac disease, Recurrent aphthous stomatitis, Abdominal distention, Steatorr... |
OMIM:212750 |
| Currarino Syndrome |
|
Anal stenosis, Chronic constipation, Anal fistula, Perianal abscess, Abdominal distention, Gastro... |
OMIM:176450 |
| Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Malnutrition, Hypopituitarism, Exocrine pancreatic insufficiency, Decrease... |
ORPHA:811 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Vomiting, Cholestasis, Abdominal distention, Hepatomegaly, Chronic diarrhea |
OMIM:620233 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen |
OMIM:618272 |
| Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Abdominal disten... |
OMIM:619991 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Intestinal... |
ORPHA:2255 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Pancreatitis, Abdominal... |
ORPHA:900 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Hepatomegaly, Abdominal pain |
ORPHA:163746 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Splenomegaly, Abdominal pain, Abdominal distention, Hepatomegaly, Jaundice |
ORPHA:822 |
| Fanconi-Bickel Syndrome |
|
Hepatic failure, Abnormal hepatic glycogen storage, Increased hepatic glycogen content, Abdominal... |
ORPHA:2088 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Platyspondylic Dysplasia, Torrance Type |
|
Cleft palate, Abdominal distention |
ORPHA:85166 |
| Pediatric Systemic Lupus Erythematosus |
|
Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Abdominal distention, Abdominal pain |
ORPHA:93552 |
| Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Splenomegaly, Protuberant abdomen, Hepatomegaly, Dysphagia, Feeding diff... |
OMIM:230900 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatic failure, Acute hepatic failure, Splenomegaly, Pancreatic isl... |
OMIM:276700 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal intestine morphology, Pancreatitis, Abdominal distention |
ORPHA:1830 |
| Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Feeding difficulties, Pancreatic aplasia |
ORPHA:261265 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Secretory diarrhea, Elevated stool chloride content, Abdominal distention |
OMIM:214700 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Cholecystitis, Abdominal distention |
ORPHA:309256 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Splenomegaly, Abdominal distention |
OMIM:602557 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Abdominal distention, Vomiting, Hepatosplenomegaly, Malabsorption, Splenomegaly,... |
ORPHA:3260 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Intestinal atresia, Congenital pyloric atresia, Nausea and vomiting, Abdominal distention |
ORPHA:79403 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
| Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
| Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... |
OMIM:602782 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Cleft palate, Protuberant abdomen |
OMIM:184250 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus, Glucose intolerance, Hyperinsulinemia |
ORPHA:785 |
| Achondrogenesis, Type Ii |
|
Cleft palate, Protuberant abdomen, Stillbirth |
OMIM:200610 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, Portal hypertension, Cryptorchidi... |
OMIM:609136 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Protuberant... |
OMIM:232220 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Hepatitis, Splenomegaly, Paralytic ileus, Hepatomegaly, Celiac disease |
OMIM:620565 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Abdominal pain, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Gastrostomy tube feeding in infancy, Bilia... |
ORPHA:83617 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Protuberant abdomen |
OMIM:617102 |
| Fanconi-Bickel Syndrome |
|
Intrahepatic cholestasis, Malabsorption, Abdominal distention, Hepatomegaly, Poor appetite |
OMIM:227810 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Hypoplasia of the thymus, Rectal atresia, Abdominal distention, Anal atresia |
OMIM:617666 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Protuberant abdomen, Abdominal distention |
OMIM:619879 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Schneckenbecken Dysplasia |
|
Cleft palate, Protuberant abdomen, Stillbirth |
OMIM:269250 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Osteogenesis Imperfecta |
|
Constipation, Dysphagia, Intestinal obstruction |
ORPHA:666 |
| Thanatophoric Dysplasia, Type I |
|
Protuberant abdomen, Neonatal death |
OMIM:187600 |
| Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Pancreatic atrophy, Pancreatic hypoplasia, Biliary tract abnor... |
OMIM:137920 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Pancreatic hypoplasia, Intestinal malrotation, Absent gallbladder,... |
OMIM:600001 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Goiter, Feeding difficulties in infancy, Constipation, Abdominal distention, Macroglossia, Thyroi... |
OMIM:218700 |
| Wilson Disease |
|
Hepatic failure, Portal fibrosis, Vomiting, Acute hepatic failure, Hepatic steatosis, Splenomegal... |
OMIM:277900 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Cholestasis, Microvesicular hepatic steatosis, Cirrhosis, Abdominal distention, ... |
OMIM:617156 |
| Spinal Cord Injury |
|
Paralytic ileus |
ORPHA:90058 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Peritonitis, Ileal atresia, Abdominal distention |
OMIM:619351 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Cryptorchidism, Cirrhosis, Abdominal distention, Hepatomegaly, Gastroesophagea... |
OMIM:270400 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis, Abdominal distention |
ORPHA:309263 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Diarrhea, Abnormal tongue morphology, Ganglioneuromatosis, Pheochromo... |
ORPHA:653 |
| Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Cholecystitis, Bowel incontinence, Abdominal distention |
ORPHA:309271 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Diabetes mellitus |
ORPHA:2237 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatosplenomegaly, Abdominal distention |
ORPHA:93352 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Reduced pancreatic beta cells, Pancreatic hypoplasia |
ORPHA:99885 |
| Cystic Fibrosis |
|
Gastroesophageal reflux, Exocrine pancreatic insufficiency, Abnormality of the liver, Malabsorpti... |
ORPHA:586 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Multiple Osteochondromas |
|
Dysphagia, Intestinal obstruction |
ORPHA:321 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:168558 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus |
OMIM:615300 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:289548 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Protuberant abdomen, Stillbirth |
OMIM:151210 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... |
ORPHA:90793 |
| Glycogen Storage Disease Ia |
|
Pancreatitis, Protuberant abdomen, Hepatomegaly, Intermittent diarrhea, Hepatocellular carcinoma |
OMIM:232200 |
| Neuroblastoma |
|
Chronic diarrhea, Abdominal distention |
ORPHA:635 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
| Diaphanospondylodysostosis |
|
Cleft palate, Protuberant abdomen, Abnormal liver lobulation |
OMIM:608022 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal temper tantrums, Malabsorption, Splenomegaly, Disinhibition, Aggressive behavior, Consti... |
ORPHA:581 |
| Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Splenomega... |
OMIM:269860 |
| Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology |
ORPHA:247768 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Protuberant abdomen |
OMIM:264700 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Protuberant abdomen |
OMIM:277440 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, Absent gallbladder, Neonatal death, High palate, Pancreatic ap... |
OMIM:618500 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia, Vomiting, Abdominal distention |
ORPHA:158684 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Meconium ileus, Feeding difficulties |
OMIM:617239 |
| Fibrochondrogenesis 1 |
|
Cleft palate, Protuberant abdomen, Stillbirth |
OMIM:228520 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... |
OMIM:202010 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... |
ORPHA:432 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Hepatic steatosis, Increased hepatic glycogen cont... |
ORPHA:79259 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... |
ORPHA:64744 |
| Schimke Immunoosseous Dysplasia |
|
Protuberant abdomen, Bilateral cryptorchidism |
OMIM:242900 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
High palate, Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
| Lethal Kniest-Like Dysplasia |
|
Cleft palate, Protuberant abdomen |
ORPHA:2347 |
| Kasabach-Merritt Phenomenon |
|
Abdominal pain, Hepatic hemangioma, Abdominal distention |
ORPHA:2330 |
| Atelosteogenesis, Type I |
|
Cryptorchidism, Neonatal death, Protuberant abdomen, Stillbirth, Cleft palate |
OMIM:108720 |
| Hurler Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Protuberant abdomen, Hepatomegaly, Macroglossia |
OMIM:607014 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hepatomegaly, Splenomegaly, Secondary hyperparathyroidism, Protuberant abdomen |
ORPHA:289157 |
| Achondrogenesis, Type Ia |
|
Protruding tongue, Protuberant abdomen, Stillbirth |
OMIM:200600 |
| Neu-Laxova Syndrome 2 |
|
High palate, Cleft palate, Protuberant abdomen |
OMIM:616038 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Macroglossia, Splenomegaly, Protuberant abdomen |
OMIM:253220 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Anal atresia, Abdominal distention |
OMIM:271520 |
| Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Protuberant abdomen |
ORPHA:239 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... |
ORPHA:90796 |
| Greenberg Dysplasia |
|
Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Neonatal death, Hepatic calcification, Pro... |
OMIM:215140 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
| Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, D... |
OMIM:241080 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Malabsorption, Villous atrophy, Mac... |
OMIM:557000 |
| Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Tube feeding, Feeding difficulties, Protuberant abdomen |
OMIM:619479 |
| Acute Transverse Myelitis |
|
Paralytic ileus, Gastroparesis, Constipation |
ORPHA:139417 |
| Woodhouse-Sakati Syndrome |
|
Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicular size, Hyperinsulinemia, S... |
ORPHA:3464 |
| Leprechaunism |
|
Megarectum, Enlarged ovaries, Abdominal distention, Hepatomegaly, Rectal prolapse |
ORPHA:508 |
| Viss Syndrome |
|
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... |
OMIM:619472 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Anorexia, Abnormality of the anus, Gastrointesti... |
ORPHA:95455 |
| Multicystic Dysplastic Kidney |
|
Cryptorchidism, Abdominal distention |
ORPHA:1851 |
| Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... |
ORPHA:90794 |
| Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, High palate, ... |
OMIM:617941 |
| Atelosteogenesis Type Ii |
|
Cleft palate, Protuberant abdomen, Bilateral cleft palate |
ORPHA:56304 |
| Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
| Opsismodysplasia |
|
Protuberant abdomen |
OMIM:258480 |
| Arboleda-Tham Syndrome |
|
Gastroesophageal reflux, Bilateral cryptorchidism, Intestinal malrotation, Cleft palate, Dysphagi... |
OMIM:616268 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Biliary cirrhosis, Gastroesophageal reflux, Cholestasis, Intrahepatic bile duct... |
OMIM:619534 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Macroglossia, Splenomegaly, Protuberant abdomen |
OMIM:252500 |
| Cranioectodermal Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, High, narrow palate,... |
OMIM:218330 |
| Mowat-Wilson Syndrome |
|
Abnormal enteric ganglion morphology, Vomiting, Supernumerary nipple, Cryptorchidism, Submucous c... |
OMIM:235730 |
| Mucolipidosis Type Ii |
|
Hepatosplenomegaly, Splenomegaly, Protuberant abdomen, Gastrostomy tube feeding in infancy |
ORPHA:576 |
| Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
| Yellow Fever |
|
Diarrhea, Vomiting, Pancreatic hyperplasia, Nausea, Abdominal pain, Hematemesis, Jaundice, Acute ... |
ORPHA:99829 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cryptorchidism, Congenital hepatic fibrosis, Ectopic anus, Esophageal atresia, Abdominal distenti... |
ORPHA:93271 |
| Weill-Marchesani Syndrome 2 |
|
Narrow palate, High palate, Protuberant abdomen |
OMIM:608328 |
| Pyknoachondrogenesis |
|
Abdominal distention |
ORPHA:3003 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Blomstrand Lethal Chondrodysplasia |
|
Protruding tongue, Protuberant abdomen |
ORPHA:50945 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatosplenomegaly, Cryptorchidism, Gastrostomy tube feeding in infancy, Hepatoblastoma, Hypoplas... |
ORPHA:96334 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Parotitis, Splenomegaly, Chronic constipation, Protuberant abdomen, Hepatomegaly, Macroglossia |
OMIM:256040 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Protuberant abdomen |
OMIM:618019 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias |
OMIM:309801 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Abnormality of the liver, Abdominal distention |
ORPHA:97214 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
| Aceruloplasminemia |
|
Elevated hepatic iron concentration, Abnormal pancreas morphology |
ORPHA:48818 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism |
OMIM:601186 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... |
ORPHA:322 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonadal dysgenesis |
OMIM:618419 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Macroglossia |
OMIM:130650 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Hypoglycemia, Cryptorc... |
OMIM:201750 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
| Beckwith-Wiedemann Syndrome |
|
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, Pseudohypoparath... |
ORPHA:116 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency |
OMIM:130050 |
| Hydrolethalus Syndrome 1 |
|
Bifid uterus, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism |
OMIM:194190 |
| Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism |
OMIM:135900 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Norrie Disease |
|
Diabetes mellitus, Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias |
ORPHA:286 |
| Peters Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypoplasia |
ORPHA:709 |
| Pallister-Killian Syndrome |
|
Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Aplasia of the up... |
OMIM:601803 |
| Peters-Plus Syndrome |
|
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Hypoplasia of the uterus, Hyp... |
OMIM:261540 |
