| Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
| Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Trehalase Deficiency |
|
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal ... |
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 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Infl... |
ORPHA:26790 |
| Burkitt Lymphoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
| Hirschsprung Disease |
|
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
| Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
| Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... |
OMIM:619445 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Portal ... |
ORPHA:131 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
| Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain |
ORPHA:48686 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... |
OMIM:615710 |
| Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
| Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia |
OMIM:606764 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Ppoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97278 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Steatorrhea |
OMIM:615935 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
| Colonic Atresia |
|
Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s... |
ORPHA:1198 |
| Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Test... |
ORPHA:83469 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Polycystic liver disease |
OMIM:174050 |
| Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Constipation, Abnormal intestine m... |
ORPHA:897 |
| Grfoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Hepa... |
ORPHA:97261 |
| Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Somatostatinoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97283 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
| Thyroid Hemiagenesis |
|
Macroglossia, Abdominal distention, Jaundice, Constipation |
ORPHA:95719 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Abdominal distention, Splenomegaly, Malnutrition, Esophageal v... |
ORPHA:75233 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Vomiting, Abnormal... |
OMIM:226300 |
| Athyreosis |
|
Macroglossia, Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Glucagonoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97280 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophagea... |
ORPHA:2591 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, D... |
ORPHA:343 |
| Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality ... |
ORPHA:314473 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Hepatomegaly, Abdominal colic, Functional intestinal obstruction, Mechanical... |
ORPHA:100079 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs... |
ORPHA:85450 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Pr... |
ORPHA:67 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Abdominal distention, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellular ... |
ORPHA:369 |
| Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Vomiting, Pancreatic calcification |
ORPHA:677 |
| Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Pancreatitis, Gallblad... |
ORPHA:521219 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, A... |
ORPHA:100924 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Abnormal liver sonography, Biliary tract abnormality, Neopl... |
ORPHA:90003 |
| Gonadoblastoma |
|
Abdominal pain, Abdominal distention, Ovarian gonadoblastoma, Abnormality of the ovary, Dysgerminoma |
ORPHA:206484 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... |
ORPHA:913 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abdominal distention, Diarrhea, Cryptorchidism, Cholestasis, Vomiting, Protein-losi... |
OMIM:608104 |
| Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Protuberant ab... |
ORPHA:226313 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
| Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth |
OMIM:600972 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ileus, Constipation, Self-mutilation |
ORPHA:52503 |
| Acrocephalopolydactyly |
|
Protuberant abdomen, Hepatosplenomegaly |
ORPHA:221054 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Malabsorption... |
ORPHA:342 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Episodic abdomi... |
ORPHA:100086 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Malabsorption, Gastroesophageal refl... |
ORPHA:183 |
| Castleman Disease |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Abdominal... |
ORPHA:160 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Abdominal distention, Microvesicular hepatic steatosis, ... |
OMIM:618528 |
| Chylomicron Retention Disease |
|
Increased hepatocellular lipid droplets, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, F... |
ORPHA:71 |
| Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Micronodular cirrhosis, Bi... |
OMIM:215600 |
| Igg4-Related Aortitis |
|
Intestinal obstruction, Abdominal pain |
ORPHA:449400 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Chronic constipation, Abdominal distention, Cryptorchidism |
ORPHA:3010 |
| Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
| Thyroid Hypoplasia |
|
Abdominal distention, Jaundice, Macroglossia, Constipation, Thyroid hypoplasia |
ORPHA:95720 |
| Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Estrogen Resistance |
|
Impaired glucose tolerance, Hyperinsulinemia, Polycystic ovaries, Hypoplasia of the uterus, Gluco... |
OMIM:615363 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Feeding difficulties in infancy, Microvesicular hepatic stea... |
OMIM:613070 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary |
ORPHA:314478 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
| Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Hypersplenis... |
OMIM:278000 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Aggressive behavior, Feeding difficulties in infancy, Ileus, Constipation,... |
OMIM:300352 |
| Shigellosis |
|
Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhe... |
ORPHA:810 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
| Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... |
ORPHA:3440 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Intestinal obstruction, Congenital hypoparathyroidism |
ORPHA:2323 |
| Acute Intermittent Porphyria |
|
Nausea and vomiting, Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudob... |
ORPHA:79276 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... |
ORPHA:1666 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Abdominal distention, Jaundice, Episodic... |
ORPHA:370348 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Malabsorption |
OMIM:601675 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Paralytic ileus, Dysphagia |
OMIM:613559 |
| Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
| Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal distention, Macroorchidism, Abdominal pain |
ORPHA:180229 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Anorexia, Abdominal distention, Di... |
ORPHA:100085 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Pyloric stenosis, Splenomegaly, Ileus, Feeding difficulties, Constipation, Dysphagi... |
OMIM:613327 |
| Folinic Acid-Responsive Seizures |
|
Abdominal distention |
ORPHA:79097 |
| Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate |
OMIM:613885 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Constipati... |
ORPHA:32960 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Chronic diarrhea, Hepatitis, Ileus |
OMIM:304790 |
| Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Diarrhea, Rectal prolapse, Ileus, Biliary cirrhosis, Hepatosplenome... |
OMIM:219700 |
| Achondrogenesis Type 1A |
|
Abdominal distention |
ORPHA:93299 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Chronic calcifying p... |
ORPHA:103918 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Constipation, Vomiting, C... |
ORPHA:469 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
| Pancreatitis, Hereditary |
|
Abdominal pain, Pancreatitis, Pancreatic pseudocyst, Steatorrhea, Pancreatic calcification, Exocr... |
OMIM:167800 |
| Porphyria Variegata |
|
Abdominal pain, Ileus, Abnormality of the liver, Constipation, Hepatocellular carcinoma, Nausea |
ORPHA:79473 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Constipation, Vomiting, Protuberant ... |
OMIM:257200 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| 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 |
|
Intestinal malrotation, Abdominal distention, Gastrointestinal atresia, Hepatitis, Bloody diarrhe... |
ORPHA:436252 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Abdominal distention, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, Cl... |
OMIM:235255 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Donohue Syndrome |
|
Abdominal distention, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia |
OMIM:246200 |
| Lead Poisoning |
|
Anorexia, Abdominal pain, Abdominal distention, Constipation, Vomiting, Abdominal cramps, Attenti... |
ORPHA:330015 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Biliary cirrhosis, Hepatitis... |
ORPHA:186 |
| Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Jaundice, Hepatosplenomegaly |
OMIM:246400 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Gastropares... |
ORPHA:85443 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Paralytic ileus, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia |
ORPHA:254930 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Chronic diarrhea |
OMIM:600802 |
| Necrotizing Enterocolitis |
|
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Abdominal distention, Gastroesophageal reflux, Feeding difficulties |
OMIM:620275 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Abdominal distention... |
ORPHA:300373 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... |
ORPHA:309031 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention, Hepatomegaly |
OMIM:619423 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Splenomegaly, Enteroc... |
ORPHA:90051 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Malabsorption, Splenomegaly, Ileus, Secretory diarrhea, Hepatitis, Colitis, Vomiting, ... |
ORPHA:37042 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ... |
ORPHA:93111 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Hypersplenism, Abdominal dis... |
ORPHA:275761 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hyperactivity, Cryptorchidism, Protuberant abdomen, Intestinal polyp |
ORPHA:457485 |
| Mody |
|
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency |
ORPHA:552 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Abdominal distention, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis, He... |
ORPHA:1655 |
| Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavi... |
ORPHA:2131 |
| Poliomyelitis |
|
Anorexia, Paralytic ileus, Vomiting, Agitation, Dysphagia, Nausea |
ORPHA:2912 |
| Sialuria |
|
Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipples, Attention deficit hyp... |
OMIM:269921 |
| Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stom... |
OMIM:212750 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Aganglionic megacolon, Abdominal distention, Cleft palate, Abdominal situs i... |
ORPHA:2604 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Ileus, High palate |
OMIM:620156 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Reye syndrome-like episodes, Diarrhea, Abdominal distention,... |
OMIM:256810 |
| Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Hypopituitarism, Decreased response to g... |
ORPHA:811 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen |
OMIM:618272 |
| Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
| Thyroid Ectopia |
|
Abdominal distention, Jaundice, Macroglossia, Constipation, Ectopic thyroid |
ORPHA:95712 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Biliary atresia, Feeding difficulties, Pancreatic aplasia, Aplasia/Hypopl... |
ORPHA:2255 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon |
ORPHA:163746 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Vomiting, Protein-losing enteropathy, Elevated hepatic ir... |
OMIM:619991 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Abdominal pain, Abdominal distention, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Abdominal distention, Increased hepatic glycogen content, Abnormal hepatic glycogen... |
ORPHA:2088 |
| Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Pancrea... |
ORPHA:900 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Peritonitis, Esophageal carcinoma, Micro... |
ORPHA:139507 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, ... |
OMIM:276700 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Cleft palate |
ORPHA:85166 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Abdominal distention, Chronic diarrhea, Cholestasis, Gastroesophageal reflux, Vomiting |
OMIM:620233 |
| Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:93552 |
| Wilson Disease |
|
Acute hepatic failure, Hypoparathyroidism, Hepatomegaly, Abdominal distention, Atypical or prolon... |
OMIM:277900 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, D... |
OMIM:230900 |
| Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal intestine morphology, Pancreatitis |
ORPHA:1830 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
| Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Pancreatic aplasia, Feeding difficulties |
ORPHA:261265 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal distention... |
ORPHA:3260 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Splenomegaly, Abdominal distention, Hepatomegaly |
OMIM:602557 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Cholecystitis |
ORPHA:309256 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Poor appetite, Malabsorption, Abdominal distention, Intrahepatic cholestasis |
OMIM:227810 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Inflammation of the large intestine, Protuberant... |
OMIM:232220 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... |
OMIM:602782 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
| Achondrogenesis, Type Ii |
|
Protuberant abdomen, Stillbirth, Cleft palate |
OMIM:200610 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen, Cleft palate |
OMIM:184250 |
| Perlman Syndrome |
|
Cryptorchidism, High, narrow palate, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Portal hypertension, Short-segment aganglionic megacolon, Cryptorchidism, ... |
OMIM:609136 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, Cleft palate, Cholelithiasis... |
ORPHA:83617 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia |
OMIM:617666 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Protuberant abdomen |
OMIM:617102 |
| Meckel Syndrome 14 |
|
Abdominal distention, Hepatic fibrosis, Protuberant abdomen |
OMIM:619879 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... |
OMIM:208540 |
| Schneckenbecken Dysplasia |
|
Protuberant abdomen, Stillbirth, Cleft palate |
OMIM:269250 |
| Osteogenesis Imperfecta |
|
Intestinal obstruction, Constipation, Dysphagia |
ORPHA:666 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Ectopic thyroi... |
OMIM:218700 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Abdominal distention, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis, Hepatic... |
OMIM:617156 |
| Thanatophoric Dysplasia, Type I |
|
Neonatal death, Protuberant abdomen |
OMIM:187600 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Intestinal malrotation, Biliary atresia, Colon perforation, Pancreatic hypopl... |
OMIM:600001 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Diarrhea, Abnormal tongu... |
ORPHA:653 |
| Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Hepatic steatosis, Self-mutilati... |
OMIM:270400 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Cholecystitis |
ORPHA:309263 |
| Metachromatic Leukodystrophy, Adult Form |
|
Abdominal distention, Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder |
ORPHA:309271 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Septate vagina, Uterus didelphys, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus |
ORPHA:785 |
| Multiple Osteochondromas |
|
Intestinal obstruction, Dysphagia |
ORPHA:321 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Hepatosplenomegaly |
ORPHA:93352 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesophageal reflux... |
ORPHA:586 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells |
ORPHA:99885 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Stillbirth, Protuberant abdomen |
OMIM:151210 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidi... |
ORPHA:168558 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancreatic insufficiency |
OMIM:137920 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea, Pancreatitis |
OMIM:232200 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Lobulated tongue, Peripo... |
OMIM:269860 |
| Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidi... |
ORPHA:289548 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Malabsorption, Aggressive behavior, Hypersexuality, Splenomegaly, Ma... |
ORPHA:581 |
| Diaphanospondylodysostosis |
|
Protuberant abdomen, Abnormal liver lobulation, Cleft palate |
OMIM:608022 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Protuberant abdomen |
OMIM:264700 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, High palate, Neonatal death, Pancreatic ap... |
OMIM:618500 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Protuberant abdomen |
OMIM:277440 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Meconium ileus, Feeding difficulties |
OMIM:617239 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting, Congenital pyloric atresia |
ORPHA:158684 |
| Fibrochondrogenesis 1 |
|
Protuberant abdomen, Stillbirth, Cleft palate |
OMIM:228520 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... |
ORPHA:210122 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Diarrhea, Hepatocellular adenoma, Ulcerative colitis, Enterocolitis, Polycystic ova... |
ORPHA:79259 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, High palate, Pancreatic aplasia |
ORPHA:556955 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen, Cleft palate |
ORPHA:2347 |
| Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Protuberant abdomen |
OMIM:242900 |
| Kasabach-Merritt Syndrome |
|
Abdominal distention, Hepatic hemangioma, Abdominal pain |
ORPHA:2330 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
| Hurler Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Macroglossia, Protuberant abdomen |
OMIM:607014 |
| Achondrogenesis, Type Ia |
|
Stillbirth, Protuberant abdomen, Protruding tongue |
OMIM:200600 |
| Atelosteogenesis, Type I |
|
Cryptorchidism, Cleft palate, Stillbirth, Protuberant abdomen, Neonatal death |
OMIM:108720 |
| Neu-Laxova Syndrome 2 |
|
Protuberant abdomen, High palate, Cleft palate |
OMIM:616038 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Anal atresia |
OMIM:271520 |
| Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Macroglossia, Protuberant abdomen, Hepatomegaly |
OMIM:253220 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Protuberant abdomen |
ORPHA:289157 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Anorexia, Malabsorption, Chronic diarrhea, Ma... |
OMIM:557000 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Pancreatic islet-cell hyperp... |
OMIM:215140 |
| Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Protuberant abdomen |
ORPHA:239 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Feeding difficulties, Small pituitary gland, Protuberant abdomen, Tube feeding |
OMIM:619479 |
| Woodhouse-Sakati Syndrome |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of t... |
OMIM:241080 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Acute Transverse Myelitis |
|
Paralytic ileus, Constipation, Gastroparesis |
ORPHA:139417 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum |
ORPHA:508 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Insulin-resistant diabetes mellitus, Hyperinsulin... |
ORPHA:3464 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... |
ORPHA:95455 |
| Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Diarrhea, High palate, Steatorrhea, Hyperechogenic pancreas, Exocrine pancreatic in... |
OMIM:617941 |
| Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
| Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
| Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Protuberant abdomen, Cleft palate |
ORPHA:56304 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Opsismodysplasia |
|
Protuberant abdomen |
OMIM:258480 |
| Arboleda-Tham Syndrome |
|
Intestinal malrotation, Bilateral cryptorchidism, Cleft palate, Feeding difficulties, Gastroesoph... |
OMIM:616268 |
| Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Anterior pituitary hypoplasia, Portal hypertension, Abdominal distention, Jaundice,... |
OMIM:619534 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, High, narrow palate, High palate, Hepatic... |
OMIM:218330 |
| Mucolipidosis Ii Alpha/Beta |
|
Splenomegaly, Macroglossia, Protuberant abdomen, Hepatomegaly |
OMIM:252500 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Abdominal distention, Submucous cl... |
OMIM:235730 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Mucolipidosis Type Ii |
|
Splenomegaly, Hepatosplenomegaly, Protuberant abdomen, Gastrostomy tube feeding in infancy |
ORPHA:576 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
| Yellow Fever |
|
Acute pancreatitis, Abdominal pain, Hematemesis, Diarrhea, Jaundice, Pancreatic hyperplasia, Vomi... |
ORPHA:99829 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Esophageal atresia, Abdominal distention, Cryptorchidism, Congenital hepatic fibrosis, Ectopic an... |
ORPHA:93271 |
| Weill-Marchesani Syndrome 2 |
|
Protuberant abdomen, High palate, Narrow palate |
OMIM:608328 |
| Pyknoachondrogenesis |
|
Abdominal distention |
ORPHA:3003 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Blomstrand Lethal Chondrodysplasia |
|
Protuberant abdomen, Protruding tongue |
ORPHA:50945 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration |
ORPHA:48818 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Cryptorchidism, Feeding difficulties, Hepatosplenomegaly, Macroglossia, Hypoplastic... |
ORPHA:96334 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Abnormal pancreas mo... |
ORPHA:449432 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Protuberant abdomen |
OMIM:618019 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Macroglossia, Chronic constipation, Protuberant abdomen, Parotitis |
OMIM:256040 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Eisenmenger Syndrome |
|
Abdominal distention, Abnormality of the liver, Hepatomegaly |
ORPHA:97214 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Clitoral hypoplasia, Hypoplastic labia majora, Hypoplasia of the uterus |
OMIM:618419 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Hepatoblastoma |
OMIM:130650 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Hypoglycemia, Cryptorchidism, Vesi... |
OMIM:201750 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Feeding difficulties in infancy, Cryptorchidism, Splenomegaly, Abnormal pancreas mo... |
ORPHA:116 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Norrie Disease |
|
Cryptorchidism, Diabetes mellitus, Uterine rupture |
ORPHA:649 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |
