Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Intestinal polyposis |
OMIM:175450 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Primary peritoneal carcinoma, Ovarian neoplasm, Melan... |
ORPHA:145 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis |
OMIM:615083 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet... |
OMIM:614350 |
Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:619101 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251636 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer |
OMIM:613244 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho... |
ORPHA:263665 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, ... |
ORPHA:440437 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of the central n... |
ORPHA:83469 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... |
ORPHA:157794 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma multif... |
ORPHA:144 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis |
OMIM:612591 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Macroglossia, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory sys... |
ORPHA:2221 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... |
ORPHA:388 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Lymphoma, Malabsorption |
ORPHA:100025 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,... |
ORPHA:247806 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... |
ORPHA:873 |
Gardner Syndrome |
|
Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino... |
ORPHA:79665 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... |
OMIM:135150 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Cowden Syndrome 1 |
|
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ... |
OMIM:158350 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Gast... |
ORPHA:2930 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Multiple g... |
ORPHA:733 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Gonadoblastoma |
|
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... |
ORPHA:206484 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Brea... |
ORPHA:1333 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia |
ORPHA:210548 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Fanconi Anemia, Complementation Group S |
|
Breast carcinoma, Ovarian carcinoma, Narrow palate, Ovarian neoplasm |
OMIM:617883 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast |
ORPHA:618 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Neoplasm of the rectum, Neoplasm... |
ORPHA:424019 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... |
ORPHA:261584 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile colonic polyposis |
ORPHA:289596 |
Chylous Ascites |
|
Neoplasm, Abnormal intestine morphology |
ORPHA:1160 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:615723 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Neuroendocrine Neoplasm Of Appendix |
|
Mechanical ileus, Functional intestinal obstruction, Midgut malrotation, Ovarian neoplasm, Adreno... |
ORPHA:100079 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Feingold Syndrome Type 2 |
|
Jejunal atresia |
ORPHA:391646 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation |
ORPHA:1201 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anu... |
OMIM:615710 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Duodenal Atresia |
|
Annular pancreas, Duodenal atresia |
ORPHA:1203 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Chordee, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis |
ORPHA:160148 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Myelodysplasia, Duodenal atresia |
OMIM:617784 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Mismatch Repair Cancer Syndrome 3 |
|
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... |
OMIM:619097 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Hamartomatous stomach polyps, M... |
OMIM:109400 |
Apert Syndrome |
|
Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplasm, Ectopic anus, Bifid uvula |
ORPHA:87 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Spinal cord tumor, Ovarian neoplasm... |
ORPHA:370348 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Intestinal polyp |
ORPHA:457485 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Oligodontia-Colorectal Cancer Syndrome |
|
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer |
OMIM:608615 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato... |
OMIM:175200 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Mccune-Albright Syndrome |
|
Intestinal polyposis |
OMIM:174800 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Hemangioma, Volvulus, Intussusception, Cerebellar medullobl... |
OMIM:112200 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Frasier Syndrome |
|
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism |
OMIM:136680 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Currarino Syndrome |
|
Bifid scrotum, Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias, Male pseudohermaphrodit... |
ORPHA:1552 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... |
ORPHA:314473 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... |
ORPHA:314478 |
Ectopic Aldosterone-Producing Tumor |
|
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm |
ORPHA:231632 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer, Genital ulcers |
OMIM:616744 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption |
OMIM:600955 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Crouzon Syndrome |
|
High palate, Dysgerminoma |
OMIM:123500 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Lymphoma, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Sex reversal |
ORPHA:139466 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Solitary Fibrous Tumor |
|
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... |
ORPHA:2126 |
Feingold Syndrome |
|
Esophageal atresia, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Duodenal stenosis |
ORPHA:2547 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Tracheobronchial leiomyomatosis, Esophageal stenosis, Diffuse leiomyomatosis, Vaginal neoplasm, V... |
ORPHA:1018 |
Cowden Syndrome 6 |
|
Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ... |
OMIM:615109 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Acute lym... |
ORPHA:1052 |
Cowden Syndrome 5 |
|
Colonic diverticula, Subcutaneous lipoma, Breast carcinoma, Furrowed tongue, Hamartomatous polypo... |
OMIM:615108 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Hypogonadism, Micr... |
OMIM:300514 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... |
ORPHA:109 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Inflammation of the large intestine, Gastritis |
OMIM:618108 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum, Neoplasm of the skin |
OMIM:616395 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Cleft palate, Ambiguous genitalia, Hemangioma, Panhypopituitarism, Duodenal ... |
ORPHA:280200 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Ectopic... |
ORPHA:2059 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Brain neoplasm, Intestinal pseudo-obstruction, Choroidal melanoma, Decreas... |
ORPHA:273 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Esophageal Atresia |
|
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi... |
ORPHA:1199 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Duodenal atresia |
OMIM:617798 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis |
ORPHA:276413 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation |
ORPHA:79302 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Malabsorption, Cleft palate, Gastroesophageal reflux, Hepato... |
ORPHA:50 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Embryonal rhabdomyosarcoma, Cleft palate, Micropenis,... |
OMIM:257300 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage |
ORPHA:774 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... |
ORPHA:139411 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Fat malabsorption |
OMIM:211600 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Neuroblasto... |
ORPHA:1666 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
Whim Syndrome |
|
Abnormal small intestine morphology, Papilloma, Cutaneous melanoma, Cervix cancer, Verrucae, Paro... |
ORPHA:51636 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Protein-losing enteropathy |
OMIM:608104 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Atypical Werner Syndrome |
|
Renal neoplasm, Ovarian neoplasm, Neoplasm of the lung, Hypogonadism, Neoplasm of the breast, Neo... |
ORPHA:79474 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Glandular hypospadias, Hypospadias, Shawl scrotum |
ORPHA:2575 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula |
OMIM:173900 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia |
OMIM:243605 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Gastrointestinal carc... |
OMIM:175050 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Enterocolitis |
OMIM:616050 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer |
OMIM:208060 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Colitis |
OMIM:614602 |
Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph... |
ORPHA:210122 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Lymphoma, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ... |
ORPHA:436159 |
Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy, Cryptorchidism |
OMIM:618440 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormality of the uterus,... |
ORPHA:2470 |
Chylomicron Retention Disease |
|
Fat malabsorption, Steatorrhea |
ORPHA:71 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test, Duodenal atr... |
OMIM:603467 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Lymphoma, Anal atresia |
ORPHA:1572 |
Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... |
ORPHA:744 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Functional abnorm... |
ORPHA:90362 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, High palate, Abnormality of the uterus, Protein-losi... |
ORPHA:1655 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... |
ORPHA:512 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Pheochromocytoma, High palate, P... |
OMIM:162300 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease |
OMIM:616100 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptor... |
ORPHA:93932 |
Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Hypospad... |
OMIM:229850 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Fibroma, Primary h... |
ORPHA:99880 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, High palate, Bifid uvula |
OMIM:601110 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia... |
ORPHA:3440 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein-losing enteropath... |
OMIM:235255 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Duodenal atresia |
OMIM:614114 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplasm, Fibroma, Primary h... |
ORPHA:143 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Gastric ulcer, Hypogonadism, Male hypogonadism |
ORPHA:3463 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Lymphoma, Inflammation of the ... |
OMIM:614700 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Cleft palate, Duodenal atresia |
OMIM:247200 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, High, narrow palate, Esophageal atresia, Pyloric stenosis, Pituitary a... |
ORPHA:96149 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
Focal Dermal Hypoplasia |
|
Giant cell tumor of bone, Gastroesophageal reflux, Papilloma, Duodenal atresia |
ORPHA:2092 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Pyloric stenosis, Cryptorchidism, Gastroesophageal re... |
ORPHA:464306 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon |
OMIM:609313 |
Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Jacobsen Syndrome |
|
Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Abnormality of the anus, Ectopic anus, ... |
ORPHA:2308 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis |
OMIM:200995 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Hypospadias, Duodenal atresia |
OMIM:618846 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate,... |
OMIM:265380 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Cryptorchidism, Protein-losing enteropathy |
OMIM:618183 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie... |
OMIM:235510 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Cryptorchidism, Posterior pituitary hypoplasia, Gastroesophageal reflux, Micropenis,... |
ORPHA:464311 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus |
OMIM:304790 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, B-cell lymphoma, Colitis, Anoperineal fistula, Crohn'... |
OMIM:619381 |
Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... |
OMIM:301043 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Furrowed tongue, Gastroesophageal reflux, High palate, Annular pancr... |
OMIM:616975 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum |
OMIM:311900 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cryptorchidism, Hypospadias, Microphallus, Duodenal atresia |
ORPHA:468631 |
Ring Chromosome 12 Syndrome |
|
High, narrow palate, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Breast... |
ORPHA:1439 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time |
OMIM:619377 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct proliferation, Hypopituitarism |
ORPHA:30391 |
Williams Syndrome |
|
Colonic diverticula, Hypoplasia of penis, Hypogonadotropic hypogonadism, Peptic ulcer, Malabsorpt... |
ORPHA:904 |
Iniencephaly |
|
Anal atresia, Duodenal atresia |
ORPHA:63259 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer |
OMIM:605822 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis |
ORPHA:90038 |
Medulloblastoma |
|
Adenomatous colonic polyposis |
ORPHA:616 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Inflammation of the large intestine, Colitis, Anoperineal fi... |
OMIM:301074 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
Tarp Syndrome |
|
Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules |
ORPHA:2886 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematological neoplasm, Hematemesis, Enterocolitis, Hemat... |
ORPHA:73263 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Thymoma, Anterior... |
ORPHA:227990 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Biliary hyperplasia, Pancreatic cysts, Esophagea... |
ORPHA:731 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... |
ORPHA:227982 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Cleft palate, Bicornuate uterus... |
OMIM:219000 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Fat malabsorption |
ORPHA:96180 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Fanconi Anemia |
|
Aganglionic megacolon, Hypospadias, Myelodysplasia, Abnormal preputium morphology, Aplasia/Hypopl... |
ORPHA:84 |
Beckwith-Wiedemann Syndrome |
|
Hepatoblastoma, Macroglossia, Large intestinal polyposis, Cleft palate |
ORPHA:116 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Malrotation of small bowel, High palate, Cleft palate |
ORPHA:2953 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Acute myeloid leukemia, Hypopituitarism, Decreased res... |
ORPHA:811 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, B-cell lymphoma, Hepatocellular carcinoma, Fibroadenoma of the breast, T-cell lymphoma... |
ORPHA:3261 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T... |
OMIM:107480 |
Mosaic Trisomy 16 |
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Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum, Hypospadias |
ORPHA:1708 |
Meier-Gorlin Syndrome 7 |
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Anal stenosis, Clitoral hypertrophy, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis... |
OMIM:617063 |
Coffin-Siris Syndrome 1 |
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Duodenal ulcer, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Gastric ulcer,... |
OMIM:135900 |
Heterotaxy, Visceral, 5, Autosomal |
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Intestinal malrotation, Duodenal atresia |
OMIM:270100 |
Syndromic Diarrhea |
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Villous atrophy, Gastritis, Colitis, Hypoplasia of the thymus, Hepatoblastoma |
ORPHA:84064 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Villous atrophy, Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Enterocolitis, Abno... |
ORPHA:391487 |
Parenteral Nutrition-Associated Cholestasis |
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Biliary hyperplasia, Cholelithiasis, Villous atrophy |
ORPHA:567983 |
Trisomy 8P |
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Cryptorchidism, Malrotation of small bowel, Annular pancreas, Cleft palate, Micropenis, Aplasia/H... |
ORPHA:264450 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Villous atrophy |
OMIM:606367 |
Heterotaxy, Visceral, 1, X-Linked |
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Posteriorly placed anus, Anal atresia, Duodenal atresia |
OMIM:306955 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden... |
OMIM:601776 |
Down Syndrome |
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Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro... |
OMIM:190685 |
Immunodeficiency 87 And Autoimmunity |
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Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... |
OMIM:619573 |
Charge Syndrome |
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Hypoparathyroidism, Anal stenosis, Hypogonadotropic hypogonadism, Decreased response to growth ho... |
OMIM:214800 |
Pearson Marrow-Pancreas Syndrome |
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Villous atrophy, Malabsorption, Pancreatic fibrosis, Steatorrhea |
OMIM:557000 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Small bowel diverticula |
ORPHA:90349 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Azoospermia, Gastric ulcer, Esophageal varix, Cholelithiasis |
ORPHA:2072 |
Genitopatellar Syndrome |
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Anal stenosis, Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Malrot... |
OMIM:606170 |
Abetalipoproteinemia |
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Fat malabsorption, Steatorrhea |
ORPHA:14 |
Thrombocytopenia-Absent Radius Syndrome |
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Facial capillary hemangioma, Pancreatic cysts, Cleft palate, Aplasia of the uterus, Meckel divert... |
OMIM:274000 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Hypospadias, Biliary hyperplasia, Hydrocele testis, Protein-losing enteropathy... |
OMIM:619991 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Gastro... |
OMIM:194190 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Supernumerary nipple, Cryp... |
OMIM:312870 |
Viss Syndrome |
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Exostosis of the external auditory canal, Chronic gastritis, Duodenitis, Intestinal malrotation, ... |
OMIM:619472 |
Autosomal Dominant Cutis Laxa |
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Small bowel diverticula |
ORPHA:90348 |
Myhre Syndrome |
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Intrauterine growth retardation, Severe short stature |
ORPHA:2588 |
Myhre Syndrome |
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Birth length less than 3rd percentile, Intrauterine growth retardation, Short stature |
OMIM:139210 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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High, narrow palate |
ORPHA:91387 |