Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Familial Adenomatous Polyposis 4 |
|
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer |
OMIM:617100 |
Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... |
ORPHA:329971 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... |
ORPHA:145 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... |
OMIM:619101 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Ovarian neoplasm, Benign gastrointestin... |
OMIM:158320 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis, Vaginal mucosal ulceration |
OMIM:618287 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614337 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma, Neoplasm of the gastrointestinal tract |
OMIM:606864 |
Gist-Plus Syndrome |
|
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor |
OMIM:175510 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endome... |
OMIM:613244 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Ovarian neoplasm, Thyroid carcinoma, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... |
OMIM:114500 |
Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... |
OMIM:135150 |
Subependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251636 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Lactose Intolerance, Adult Type |
|
Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223100 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Intussusception, Prosta... |
ORPHA:157794 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... |
ORPHA:263665 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Ovarian Cancer |
|
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma |
OMIM:167000 |
Ganglioneuroma |
|
Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Abnormal rectum morphology,... |
ORPHA:251992 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Neoplasm of the central nervous system, Neopla... |
ORPHA:83469 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Hirschsprung Disease |
|
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... |
ORPHA:388 |
Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Ovarian neopl... |
ORPHA:144 |
Desmoid Tumor |
|
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... |
ORPHA:873 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm, Ovarian neoplasm, Macroglossia, Neoplasm of the respiratory system, Neoplasm of the bre... |
ORPHA:2221 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... |
ORPHA:523 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... |
ORPHA:2198 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... |
ORPHA:70482 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Melena, Gastric adenocarcinoma |
OMIM:619182 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormality of the small intestine, Lymphoma |
ORPHA:100025 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Breast carci... |
ORPHA:587 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Cowden Syndrome 1 |
|
High palate, Hydrocele testis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Furrow... |
OMIM:158350 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... |
ORPHA:1876 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Neoplasm, Stomach cancer, Furrowed tongue, Intestinal polyposis, Colon cancer, Gas... |
ORPHA:2930 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Neoplasm of the liver, Breast carcinoma, Melanoma, Colon cancer, Intes... |
ORPHA:1333 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
High palate, Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, ... |
ORPHA:261584 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy |
OMIM:613217 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Gastric Volvulus, Intrathoracic |
|
Hiatus hernia, Volvulus |
OMIM:137210 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Gonadoblastoma, Decreased testicular... |
OMIM:616425 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
Werner Syndrome |
|
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... |
ORPHA:902 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadia... |
OMIM:601346 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... |
OMIM:180295 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... |
ORPHA:137608 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neurofibromas, Dysphagia, Gastrointestinal stroma tumor |
OMIM:606764 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Intestinal bleeding, Anal canal squamou... |
ORPHA:424019 |
Fanconi Anemia, Complementation Group S |
|
Narrow palate, Ovarian neoplasm, Breast carcinoma |
OMIM:617883 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Chylous Ascites |
|
Abnormal intestine morphology, Neoplasm |
ORPHA:1160 |
Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:615723 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast |
ORPHA:618 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Carney Complex |
|
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... |
ORPHA:1359 |
Neuroendocrine Neoplasm Of Appendix |
|
Adrenocorticotropic hormone excess, Ovarian neoplasm, Intestinal carcinoid, Adenocarcinoma of the... |
ORPHA:100079 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, Gastrointestinal... |
ORPHA:97286 |
Congenital Short Bowel Syndrome |
|
Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis, Decreased intestin... |
OMIM:615237 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Cryptorchidism, Acute leukemia |
ORPHA:281090 |
Intrinsic Factor Deficiency |
|
Malabsorption, Absence of intrinsic factor |
OMIM:261000 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions |
OMIM:619445 |
Lhermitte-Duclos Disease |
|
Ovarian neoplasm, Macroglossia, Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Neoplasm of the pancreas, Intussusception, Stomach cancer, Intestinal... |
ORPHA:2929 |
Oligodontia-Colorectal Cancer Syndrome |
|
Adenomatous colonic polyposis, Colon cancer, Fundic gland polyposis, Breast carcinoma |
OMIM:608615 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ne... |
ORPHA:2869 |
Immunodeficiency 61 |
|
Malabsorption, Colon cancer, Frequent Giardia lamblia infestation |
OMIM:300310 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Trigonocephaly 1 |
|
Meckel diverticulum, Long penis |
OMIM:190440 |
Turcot Syndrome With Polyposis |
|
Melena, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intestinal poly... |
ORPHA:99818 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Intestinal atresia, Enterocolitis, Intestinal malrotation, Hypoplasia of the th... |
OMIM:243150 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Benign Schwannoma |
|
Vestibular schwannoma, Abnormal esophagus morphology, Intestinal polyposis, Scleral schwannoma, S... |
ORPHA:252164 |
Atresia Of Small Intestine |
|
Intestinal malrotation, Intestinal hypoplasia, Jejunal atresia |
ORPHA:1201 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Tylosis With Esophageal Cancer |
|
Neoplasm, Esophageal carcinoma |
OMIM:148500 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Hematochezia |
ORPHA:160148 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma |
OMIM:614350 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphoma, Glioblastoma mult... |
OMIM:619097 |
Fanconi Anemia, Complementation Group W |
|
Myelodysplasia, Duodenal atresia, Decreased response to growth hormone stimulation test |
OMIM:617784 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Barrett Esophagus |
|
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus |
OMIM:614266 |
Feingold Syndrome Type 2 |
|
Jejunal atresia |
ORPHA:391646 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Pancreatic hypoplasia,... |
OMIM:615710 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Gastric varix |
OMIM:613490 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Vill... |
ORPHA:95427 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hemangioma, Intestinal polyp, Lactose intolerance |
ORPHA:457485 |
Legius Syndrome |
|
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... |
ORPHA:137605 |
Immunodeficiency 31C |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:614162 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Intestinal polyposis |
OMIM:174800 |
Apert Syndrome |
|
Ectopic anus, Narrow palate, Ovarian neoplasm, Cleft palate, Bifid uvula, Esophageal atresia |
ORPHA:87 |
46,Xy Sex Reversal 6 |
|
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma |
OMIM:613762 |
Basal Cell Nevus Syndrome |
|
Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcin... |
OMIM:109400 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal... |
OMIM:300048 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Aplasia of the thymus |
ORPHA:3004 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Intussu... |
OMIM:175200 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Gastrointestinal ... |
OMIM:175500 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption |
OMIM:600955 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder... |
ORPHA:370348 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm, Lipoma, Thyroid carcinoma, Narrow palate, Uterine neoplasm, Neoplasm of the adrenal cor... |
ORPHA:109 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis |
OMIM:136680 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Disorder Of Bile Acid Synthesis |
|
Fat malabsorption |
ORPHA:79168 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Intussusception, Hemangioma, Rectal prolapse, Cerebellar medulloblastoma, Vo... |
OMIM:112200 |
Pten Hamartoma Tumor Syndrome |
|
Papilloma, Neoplasm, Lipoma, Thyroid carcinoma, Breast carcinoma, Hemangioma, Endometrial carcino... |
ORPHA:306498 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Intestinal malrotation, Colonic diverticula, Intestinal pseudo-obstruction, Functional intestinal... |
OMIM:243180 |
Reynolds Syndrome |
|
Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux |
ORPHA:779 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Neuroblas... |
ORPHA:440437 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Breast carcinoma, Renal cortical adenoma, Papillary thyroid carcinoma, Papillary renal cell carci... |
ORPHA:97290 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Congenital Contractural Arachnodactyly |
|
High palate, Tracheoesophageal fistula, Duodenal atresia, Intestinal malrotation |
ORPHA:115 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Cowden Syndrome 5 |
|
High palate, Breast carcinoma, Furrowed tongue, Transitional cell carcinoma of the bladder, Colon... |
OMIM:615108 |
Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... |
OMIM:174900 |
Cowden Syndrome 6 |
|
High palate, Breast carcinoma, Fibroadenoma of the breast, Furrowed tongue, Transitional cell car... |
OMIM:615109 |
Currarino Syndrome |
|
Hypoplasia of penis, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Sacrococcygeal terat... |
ORPHA:1552 |
Mungan Syndrome |
|
Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Barrett esophagus |
OMIM:611376 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... |
ORPHA:314473 |
Sucrosuria, Hiatus Hernia And Mental Retardation |
|
Hiatus hernia |
OMIM:272000 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Small bowel diverticula, Colonic diverticula |
OMIM:223330 |
Paragangliomas 4 |
|
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... |
OMIM:115310 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcification, Ova... |
ORPHA:314478 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract, Hematochezia, Protein-losi... |
ORPHA:2070 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis, Genital ulcers |
OMIM:616744 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Duodenal ulcer, Steatorrhea |
ORPHA:3217 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormal rectum morphology |
ORPHA:101009 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... |
ORPHA:251510 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Harrod Syndrome |
|
High palate, High, narrow palate, External genital hypoplasia, Hypospadias, Malrotation of small ... |
OMIM:601095 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Renal cortical adenoma |
ORPHA:231632 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Adrenocortical adenoma, Neuroendocrine neoplasm, Hematoche... |
ORPHA:913 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Refractory Celiac Disease |
|
Malabsorption, Lymphoma, Villous atrophy, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Duodenitis, Villous atrophy |
OMIM:614328 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Ne... |
ORPHA:424016 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Serkal Syndrome |
|
Abnormal penis morphology, Sex reversal, Malrotation of small bowel, Hypospadias |
ORPHA:139466 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... |
OMIM:194080 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Neoplasm of the liver, Neoplasm, Uterine neoplasm, Prostate cancer, Neoplasm of... |
ORPHA:2126 |
Alg6-Cdg |
|
Protein-losing enteropathy, Macroglossia |
ORPHA:79320 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Esophageal atresia |
ORPHA:1305 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Cowden Syndrome |
|
High palate, Furrowed tongue, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neopl... |
ORPHA:201 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Papillary thyroid carcinoma, Papillary renal cell carcinoma, Follicular thyroid carcinoma, Colon ... |
ORPHA:319487 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Duodenal stenosis |
ORPHA:2547 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia |
ORPHA:209964 |
Mosaic Variegated Aneuploidy Syndrome |
|
Duodenal atresia, Neoplasm, Cleft palate, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Myelo... |
ORPHA:1052 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal neoplasm, Diffuse leiomyomatosis, Gastroesophageal reflux, Uterine neoplasm, Morpholog... |
ORPHA:1018 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Fat malabsorption |
OMIM:214950 |
Fanconi Anemia, Complementation Group B |
|
Duodenal atresia, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Hypogona... |
OMIM:300514 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Inflammation of the large intestine |
OMIM:618108 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Fryns Syndrome |
|
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Bicornuate ut... |
ORPHA:2059 |
Microform Holoprosencephaly |
|
Duodenal atresia, Hypoplasia of penis, Cleft palate, Hemangioma, Panhypopituitarism, Ambiguous ge... |
ORPHA:280200 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage, Cavernous hemangioma, Viscer... |
ORPHA:774 |
Netherton Syndrome |
|
Villous atrophy, Intestinal atresia, Abnormal intestine morphology |
OMIM:256500 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... |
ORPHA:273 |
Trichothiodystrophy 3, Photosensitive |
|
Pyloric stenosis, Bilateral cryptorchidism, Neoplasm of the skin, Meckel diverticulum |
OMIM:616395 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Duodenal ulcer, Cervicitis |
ORPHA:722 |
Aicardi Syndrome |
|
Malabsorption, Hiatus hernia, Hepatoblastoma, Cleft palate, Gastroesophageal reflux, Multiple lip... |
ORPHA:50 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Duodenal atresia, Micropenis, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility |
OMIM:617798 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia, Submucous cleft hard palate |
OMIM:619227 |
Esophageal Atresia |
|
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... |
ORPHA:1199 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Meckel diverticulum |
ORPHA:163961 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis |
ORPHA:276413 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Hematoc... |
OMIM:175050 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... |
OMIM:150800 |
X-Linked Non-Syndromic Intellectual Disability |
|
Pyloric stenosis, Meckel diverticulum |
ORPHA:777 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Enterocolitis |
OMIM:616050 |
Opsoclonus-Myoclonus Syndrome |
|
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... |
ORPHA:1183 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Fat malabsorption |
ORPHA:79302 |
Crouzon Syndrome |
|
Dysgerminoma |
OMIM:123500 |
Carney Triad |
|
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... |
ORPHA:139411 |
Scleroderma |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:801 |
Bannayan-Riley-Ruvalcaba syndrome |
|
High palate, Lipoma, Intussusception, Hemangioma, Multiple lipomas, Hematochezia, Meningioma, Ham... |
OMIM:153480 |
Radiation Proctitis |
|
Rectal fistula, Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology, Hemato... |
ORPHA:70475 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Colitis |
OMIM:614602 |
Atypical Werner Syndrome |
|
Ovarian neoplasm, Renal neoplasm, Neoplasm of the small intestine, Neoplasm of the lung, Neoplasm... |
ORPHA:79474 |
Cowden-Like syndrome |
|
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma |
OMIM:612359 |
Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
Dextrocardia |
|
Neuroblastoma, Intestinal malrotation, Pancreatic hypoplasia, Abnormal reproductive system morpho... |
ORPHA:1666 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:90291 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Protein-losing enteropathy |
OMIM:608104 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Fat malabsorption |
OMIM:211600 |
Kennerknecht syndrome |
|
High palate, Agonadism, Malrotation of colon, Hypoplasia of the uterus |
OMIM:600908 |
Whim Syndrome |
|
Papilloma, Cutaneous melanoma, Cervix cancer, Abnormality of the small intestine, Verrucae, Parot... |
ORPHA:51636 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypospadias, Glandular hypospadias, Gastritis, Shawl scrotum |
ORPHA:2575 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula |
OMIM:173900 |
Stromme Syndrome |
|
Jejunal atresia, Duodenal atresia, Intestinal malrotation, Cleft palate |
OMIM:243605 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology |
ORPHA:2357 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Colitis |
OMIM:209920 |
Multiple Endocrine Neoplasia Type 1 |
|
Melena, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin... |
ORPHA:652 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Bifid uvula |
OMIM:601110 |
Primary Intestinal Lymphangiectasia |
|
Disseminated cutaneous warts, Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin con... |
ORPHA:90362 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract |
ORPHA:2847 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphoma, Gastrointestinal stroma tumor |
ORPHA:1572 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Abnormal stomach morphology, Intussusception, Abnormal duodenum ... |
ORPHA:512 |
Proteus Syndrome |
|
Neoplasm, Lymphangioma, Ovarian neoplasm, Lipoma, Exostoses, Macroorchidism, Neoplasm of the cent... |
ORPHA:744 |
Chylomicron Retention Disease |
|
Fat malabsorption, Steatorrhea |
ORPHA:71 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607765 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Protein-losing enteropathy, Macroglossia |
OMIM:618440 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Duodenal atresia, Cryptorchidism, Micropha... |
OMIM:603467 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer |
OMIM:208060 |
Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Duodenal stenosi... |
ORPHA:2470 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... |
ORPHA:210122 |
Feingold Syndrome Type 1 |
|
Anal atresia, Duodenal atresia, Gastrointestinal atresia, Jejunal atresia, Esophageal atresia |
ORPHA:391641 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Colitis, Lymphoproliferative disorder, Inflammation of the large intestine, Lymphoma, Villous atr... |
OMIM:614700 |
Feingold Syndrome 1 |
|
High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Esophageal atresia |
OMIM:164280 |
Multiple Endocrine Neoplasia, Type Iib |
|
High palate, Medullary thyroid carcinoma, High, narrow palate, Pheochromocytoma, Colonic divertic... |
OMIM:162300 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Micropenis, Abnormal fallopian tube morphology, Abnormality of the uterus, Protein-l... |
ORPHA:1655 |
Medulloblastoma |
|
Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the... |
ORPHA:616 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Gastric varix |
ORPHA:64743 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Lymphocytic infiltration of the colorectal mucosa |
OMIM:616100 |
Cat Eye Syndrome |
|
Anal atresia, Rectal fistula, Cleft palate, Intestinal malrotation, Volvulus, Anal stenosis, Rect... |
OMIM:115470 |
Visceral Myopathy 1 |
|
Dysphagia, Megaduodenum, Intestinal pseudo-obstruction, Microcolon, Aganglionic megacolon |
OMIM:155310 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Cleft palate, Micropenis, Protein-losing enteropathy, Pancreatic lymphangiectasis, C... |
OMIM:235255 |
Storm Syndrome |
|
Fat malabsorption |
OMIM:185069 |
Waardenburg Syndrome |
|
Abnormal vagina morphology, Aplasia/Hypoplasia of the colon, Abnormality of the gastrointestinal ... |
ORPHA:3440 |
Fg Syndrome Type 1 |
|
High palate, Anal atresia, Malrotation of colon, Gastroesophageal reflux, Small pituitary gland, ... |
ORPHA:93932 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid adenoma, Primar... |
ORPHA:99880 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Duodenal atresia, Decreased response to growth hormone stimulation test |
OMIM:614114 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Fryns Syndrome |
|
Anal atresia, Duodenal atresia, Bicornuate uterus, Cleft palate, Bifid scrotum, Intestinal malrot... |
OMIM:229850 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Wolfram Syndrome |
|
Malabsorption, Male hypogonadism, Hypogonadism, Gastrointestinal hemorrhage, Gastric ulcer |
ORPHA:3463 |
Parathyroid Carcinoma |
|
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Prim... |
ORPHA:143 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Miller-Dieker Lissencephaly Syndrome |
|
Duodenal atresia, Cryptorchidism, Cleft palate |
OMIM:247200 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Protein-losing enteropathy, Hematochezia |
OMIM:618183 |
Distal Monosomy 12Q |
|
Annular pancreas, Duodenal atresia, Pituitary adenoma, High, narrow palate, Micropenis, Unilatera... |
ORPHA:96149 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Villous atrophy |
OMIM:304790 |
Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Duodenal atresia, Gastroesophageal reflux, Micropenis, Hypospadias, Pyloric stenosis, Breast hypo... |
ORPHA:464306 |
Focal Dermal Hypoplasia |
|
Giant cell tumor of bone, Papilloma, Duodenal atresia, Gastroesophageal reflux |
ORPHA:2092 |
Microgastria-Limb Reduction Defects Association |
|
Gastroesophageal reflux, Bicornuate uterus, Intestinal malrotation, Splenogonadal fusion, Microga... |
OMIM:156810 |
Diets-Jongmans Syndrome |
|
Hypospadias, Duodenal atresia, Cryptorchidism |
OMIM:618846 |
Monosomy 9Q22.3 |
|
Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... |
ORPHA:77301 |
Jacobsen Syndrome |
|
Ectopic anus, Annular pancreas, Duodenal atresia, Intestinal malrotation, Pyloric stenosis, Abnor... |
ORPHA:2308 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Jejunal atresia, Microcolon, Volvulus |
OMIM:609313 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Cryptorchidism, Meckel diverticulum |
OMIM:602613 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Anal atresia, Duodenal atresia, Bicornuate uterus, Cleft palate, Intestinal mal... |
OMIM:265380 |
Meier-Gorlin Syndrome 7 |
|
High palate, Anal atresia, Cleft palate, Micropenis, Hypospadias, Urethral stricture, Anal stenos... |
OMIM:617063 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Cryptorc... |
OMIM:235510 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine |
OMIM:200995 |
Beckwith-Wiedemann Syndrome |
|
Neoplasm, Neuroblastoma, Hepatoblastoma, Cleft palate, Macroglossia, Large intestinal polyposis, ... |
ORPHA:116 |
Osteootohepatoenteric Syndrome |
|
Villous atrophy, Ileoileal intussusception, Increased intestinal transit time |
OMIM:619377 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Duodenal atresia, Gastroesophageal reflux, Micropenis, Hypospadias, Posterior pituitary hypoplasi... |
ORPHA:464311 |
Holoprosencephaly 13, X-Linked |
|
Duodenal atresia, Gastroesophageal reflux, Median cleft palate, Cleft palate, Submucous cleft har... |
OMIM:301043 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, Tracheoesophageal f... |
ORPHA:2538 |
Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, B-cell lymphoma, Colitis, Gastritis, Cholesteatoma, Duodenal ulcer, Villous atro... |
OMIM:619381 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
High palate, Annular pancreas, Duodenal atresia, Gastroesophageal reflux, Hypospadias, Furrowed t... |
OMIM:616975 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Hypergonadotropic hypogonadism, Xerostomia, Central diabetes insipidus, Atrophic gastrit... |
ORPHA:227990 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Duodenal atresia, Cryptorchidism, Microphallus |
ORPHA:468631 |
Ring Chromosome 12 Syndrome |
|
High, narrow palate, Cryptorchidism, Hemangioma, Glandular hypospadias, Breast hypoplasia, Uterin... |
ORPHA:1439 |
Iniencephaly |
|
Anal atresia, Duodenal atresia |
ORPHA:63259 |
Williams Syndrome |
|
Cholelithiasis, Abnormal gastric mucosa morphology, Malabsorption, Gastroesophageal reflux, Hypop... |
ORPHA:904 |
Townes-Brocks Syndrome 1 |
|
Anal atresia, Duodenal atresia, Gastroesophageal reflux, Bifid scrotum, Tracheoesophageal fistula... |
OMIM:107480 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Intussusception, Colonic stenosis, Rectal prolapse, Intestinal perforation |
ORPHA:90038 |
Nmda Receptor Encephalitis |
|
Hodgkin lymphoma, Neuroblastoma, Ovarian teratoma, Neoplasm of the thymus, Neoplasm of the lung, ... |
ORPHA:217253 |
Syndromic Diarrhea |
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Colitis, Gastritis, Hepatoblastoma, Hypoplasia of the thymus, Villous atrophy |
ORPHA:84064 |
Autoimmune Polyendocrinopathy Type 3 |
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Thymoma, Hypergonadotropic hypogonadism, Xerostomia, Autoimmune hypoparathyroidism, Central diabe... |
ORPHA:227982 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Enterocolitis, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Villous atrophy, Abno... |
ORPHA:391487 |
Tarp Syndrome |
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Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cryptorchidism |
ORPHA:2886 |
Dermatomyositis |
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Lung adenocarcinoma, Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma |
ORPHA:221 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Villous atrophy |
OMIM:606367 |
Parenteral Nutrition-Associated Cholestasis |
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Cholelithiasis, Villous atrophy, Biliary hyperplasia |
ORPHA:567983 |
Pancreatic Cancer |
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Neoplasm of the pancreas |
OMIM:260350 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Chronic gastritis, Colitis, Inflammation of the large intestine, Perianal abscess, Esophagitis, A... |
OMIM:301074 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Urethral diverticulum, Small bowel diverticula |
ORPHA:90349 |
Zygomycosis |
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Melena, Colitis, Gastritis, Unusual gastrointestinal infection, Ileitis, Enterocolitis, Hematemes... |
ORPHA:73263 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangiocarcinoma, Hepatoblastoma, Esophageal varix, Fat malabsorption, Protein-losing enteropat... |
ORPHA:731 |
Isolated Biliary Atresia |
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Bile duct proliferation, Atretic gallbladder, Hypopituitarism, Fat malabsorption |
ORPHA:30391 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Fat malabsorption |
ORPHA:96180 |
Fanconi Anemia |
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High palate, Anal atresia, Neoplasm, Absent testis, Bicornuate uterus, Cleft palate, Abnormal pre... |
ORPHA:84 |
Fraser Syndrome 1 |
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Bicornuate uterus, Cleft palate, Micropenis, Hypospadias, Abnormality of the small intestine, Cli... |
OMIM:219000 |
Autoimmune Lymphoproliferative Syndrome |
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Burkitt lymphoma, Colitis, Gastritis, Thyroid carcinoma, Hodgkin lymphoma, Fibroadenoma of the br... |
ORPHA:3261 |
17Q11 Microdeletion Syndrome |
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Glomus jugular tumor, Optic nerve glioma, Plexiform neurofibroma, Glioma, Precocious puberty, Bre... |
ORPHA:97685 |
Shwachman-Diamond Syndrome |
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Decreased response to growth hormone stimulation test, Steatorrhea, Abnormality of the gastrointe... |
ORPHA:811 |
Musculocontractural Ehlers-Danlos Syndrome |
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High palate, Malrotation of small bowel, Cryptorchidism, Cleft palate |
ORPHA:2953 |
Coffin-Siris Syndrome 1 |
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High palate, Intussusception, Cleft palate, Intestinal malrotation, Hemangioma, Hypospadias, Duod... |
OMIM:135900 |
Immunodeficiency 87 And Autoimmunity |
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Hodgkin lymphoma, Increased fecal calprotectin level, Cleft palate, Necrotizing enterocolitis, Pe... |
OMIM:619573 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypergonadotropic hypogonadism, Villous atrophy, Steatorrhea |
OMIM:212065 |
Pearson Marrow-Pancreas Syndrome |
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Villous atrophy, Pancreatic fibrosis, Malabsorption, Steatorrhea |
OMIM:557000 |
Mosaic Trisomy 16 |
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Abnormality of the gastrointestinal tract, Hypospadias, Meckel diverticulum, Anteriorly placed anus |
ORPHA:1708 |
Heterotaxy, Visceral, 5, Autosomal |
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Intestinal malrotation, Duodenal atresia |
OMIM:270100 |
Trisomy 8P |
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Annular pancreas, Neuroblastoma, Cleft palate, Micropenis, Malrotation of small bowel, Bifid uvul... |
ORPHA:264450 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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High palate, Hiatus hernia, Cleft palate, Intestinal malrotation, Abnormal duodenum morphology, C... |
OMIM:601776 |
Down Syndrome |
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Anal atresia, Macroglossia, Myeloproliferative disorder, Acute megakaryocytic leukemia, Protrudin... |
OMIM:190685 |
Bloom Syndrome |
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Recurrent gastroenteritis, Esophageal neoplasm, Neoplasm of the colon, Malignant genitourinary tr... |
ORPHA:125 |
Heterotaxy, Visceral, 1, X-Linked |
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Posteriorly placed anus, Anal atresia, Duodenal atresia |
OMIM:306955 |
Charge Syndrome |
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Hypoparathyroidism, Anal atresia, Duodenal atresia, Labial hypoplasia, External genital hypoplasi... |
OMIM:214800 |
Alg9-Cdg |
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Hypoplasia of the ovary, Gastroesophageal reflux, Bicornuate uterus, Bifid uvula, Hypoplastic nip... |
ORPHA:79328 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
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Meconium ileus, Gastritis, Hypospadias, Shawl scrotum |
OMIM:219721 |
Trichohepatoenteric Syndrome 1 |
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Hypospadias, Villous atrophy, Bifid uvula |
OMIM:222470 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cholelithiasis, Azoospermia, Esophageal varix, Gastric ulcer |
ORPHA:2072 |
Abetalipoproteinemia |
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Fat malabsorption, Steatorrhea |
ORPHA:14 |
Thrombocytopenia-Absent Radius Syndrome |
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Cleft palate, Aplasia of the uterus, Facial capillary hemangioma, Pancreatic cysts, Meckel divert... |
OMIM:274000 |
Malakoplakia |
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Neoplasm of the rectum, Neoplasm of the colon, Prostate neoplasm |
ORPHA:556 |
Liver Disease, Severe Congenital |
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Hydrocele testis, Chronic gastritis, Hypospadias, Cholesteatoma, Pancreatic hypoplasia, Protein-l... |
OMIM:619991 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Gastroesophageal reflux, Cleft palate, Hemangioma, Malrotation of small bowel... |
OMIM:194190 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Anal atresia, Narrow palate, Hepatoblastoma, Cleft palate, Macroglossia, Intestinal malrotation, ... |
OMIM:312870 |
Viss Syndrome |
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High palate, Chronic gastritis, Gastroesophageal reflux, High, narrow palate, Macroglossia, Intes... |
OMIM:619472 |
Autosomal Dominant Cutis Laxa |
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Small bowel diverticula |
ORPHA:90348 |
Myhre Syndrome |
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Severe short stature, Intrauterine growth retardation |
ORPHA:2588 |
Myhre Syndrome |
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Intrauterine growth retardation, Birth length less than 3rd percentile, Short stature |
OMIM:139210 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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High, narrow palate |
ORPHA:91387 |