Ciliary Discoordination Due To Random Ciliary Orientation |
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Recurrent infections |
OMIM:215518 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Desmoid Disease, Hereditary |
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Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors |
OMIM:135290 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Polyposis Syndrome, Hereditary Mixed, 2 |
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Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
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Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Hirschsprung Disease, Susceptibility To, 3 |
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Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
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Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Muir-Torre Syndrome |
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Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Lynch Syndrome 8 |
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Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... |
OMIM:613244 |
Squamous Cell Carcinoma Of The Anal Canal |
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Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Neoplasm of the rectum, Neoplasm... |
ORPHA:424019 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Neuroblastoma, Susceptibility To, 2 |
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Neuroblastoma, Aganglionic megacolon, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:613013 |
Hereditary Mixed Polyposis Syndrome |
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Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abnormal gastric mucosa morpho... |
ORPHA:263665 |
Meconium Ileus |
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Microcolon, Meconium ileus |
OMIM:614665 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... |
ORPHA:2241 |
Radiation Proctitis |
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Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Sepsis, He... |
ORPHA:70475 |
Gist-Plus Syndrome |
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Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon, Sepsis |
OMIM:619362 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Microcolon, Intestinal malrotation |
OMIM:619431 |
Visceral Myopathy 1 |
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Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... |
ORPHA:109 |
Mednik Syndrome |
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Volvulus, Jejunal atresia, Microcolon |
OMIM:609313 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Microcolon, Ileal atresia, Recurrent infections |
OMIM:619351 |
Fg Syndrome Type 1 |
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Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... |
ORPHA:93932 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Ileus, Aganglionic megacolon, Microcolon |
ORPHA:163746 |
Cystic Fibrosis |
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Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci... |
ORPHA:586 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Colon perforation, Intestinal malrotation, Microcolon |
OMIM:600001 |
Restrictive Dermopathy |
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Submucous cleft hard palate, Microcolon |
ORPHA:1662 |