Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Premature Ovarian Failure 1 |
|
Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Vomiting, Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility, Aplasia of the ovary |
OMIM:614324 |
Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Reduced antral follicle count |
OMIM:618723 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PAS-positive s... |
OMIM:619445 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Premature Ovarian Failure 11 |
|
Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Vomiting, Intestinal malrotation |
ORPHA:1201 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:300511 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:300048 |
Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Diarrhea, Steatorrhea, Hematochezia, Vo... |
ORPHA:2070 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... |
OMIM:110100 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, Vomiting, Protein-los... |
OMIM:175500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... |
OMIM:601346 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Megaduodenum |
OMIM:611376 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy |
ORPHA:79327 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Malabsorption, Villous atrophy |
OMIM:600955 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... |
ORPHA:263665 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Protein-losing enteropathy |
ORPHA:79319 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Microvillus Inclusion Disease |
|
Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Chronic diarrhea, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Patent ductus arteriosus, Diarrhea, Vomiting, Protein-losing enteropathy |
OMIM:608104 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Acholic stools, Diarrhea, Fat malabsorption, Steatorrhea |
OMIM:607765 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis |
OMIM:614602 |
Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Diarrhea, Vomiting, Constipa... |
OMIM:155310 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Duodenal stenosis |
ORPHA:2547 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Diarrhea, Fat malabsorption |
OMIM:211600 |
Autoinflammation With Infantile Enterocolitis |
|
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis |
OMIM:616050 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Diarrhea, Rectal prolapse, Adenomatous colonic ... |
ORPHA:79076 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Chylomicron Retention Disease |
|
Fat malabsorption, Diarrhea, Vomiting, Steatorrhea |
ORPHA:71 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ... |
ORPHA:2847 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Patent ductus arteriosus, Annu... |
ORPHA:210122 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe... |
ORPHA:90796 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... |
OMIM:115470 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Villous atrophy, Colitis, Protracted diarrhea |
OMIM:209920 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Vomiting |
OMIM:619510 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation |
ORPHA:79302 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Neo... |
ORPHA:2929 |
Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... |
ORPHA:90362 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... |
ORPHA:512 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Immunodeficiency 31C |
|
Villous atrophy, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussuscep... |
OMIM:614162 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum |
OMIM:616395 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High palate, Protein-losing enteropathy |
OMIM:235255 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Chronic diarrhea, Ileus |
OMIM:304790 |
Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy, Cryptorchidism |
OMIM:618440 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Patent ductus arteriosus, Tracheoesophageal fistula, Duodenal stenos... |
ORPHA:141127 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea... |
OMIM:619377 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Cryptorchidism, Secretory diarrhea, Protein-losing enteropathy |
OMIM:618183 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie... |
OMIM:235510 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, High palate, Protein-losing enteropathy |
ORPHA:1655 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Dextrocardia |
|
Pancreatic hypoplasia, Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis |
ORPHA:2470 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum |
OMIM:311900 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Malrotation of small bowel, Cleft palate, High palate, Constipation |
ORPHA:2953 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Diarrhea, Peritonitis, Enterocolitis, Hemato... |
ORPHA:73263 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, ... |
OMIM:265380 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Fat malabsorption |
ORPHA:96180 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, Go... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, Go... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, Go... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea, Go... |
ORPHA:99226 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis |
OMIM:200995 |
Tarp Syndrome |
|
Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules |
ORPHA:2886 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct proliferation, Hypopituitarism |
ORPHA:30391 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Biliary hyperplasia, Pancreatic cysts, Esophagea... |
ORPHA:731 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Pancreatic fibrosis, Malabsorption, Chronic diarrhea, Vomiting, Steatorrhea, Exo... |
OMIM:557000 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Constipation, A... |
OMIM:601776 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cry... |
OMIM:229850 |
Mosaic Trisomy 16 |
|
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Patent ductus arteriosus, Meck... |
ORPHA:1708 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Hepatoblastoma, Patent ductus arteriosus, Bloody diarrhea, Colitis, H... |
ORPHA:84064 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Hypopituitarism, Decreased response to growth hormone ... |
ORPHA:811 |
Abetalipoproteinemia |
|
Fat malabsorption, Chronic diarrhea, Vomiting, Steatorrhea |
ORPHA:14 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, Aplasia/Hypoplasia of the... |
ORPHA:264450 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:84 |
Fraser Syndrome 1 |
|
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Gastritis, Duodenal ulcer, Diarrhea, Colitis, Vomiting, Anoperineal fistula, Cro... |
OMIM:619381 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Diarrhea, Peritonitis, Patent ductus arteriosus, Hydrocel... |
OMIM:619991 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Patent ductus arteriosus, Meckel diverticulum, Cleft palate |
OMIM:274000 |
Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Small bowel diverticula |
ORPHA:90349 |
Autosomal Dominant Cutis Laxa |
|
Vomiting, Small bowel diverticula |
ORPHA:90348 |
Genitopatellar Syndrome |
|
Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Ana... |
OMIM:606170 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Intestinal malrotation, Supernumerary nipple, Cryptorchidism, P... |
OMIM:312870 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Malrotation of small bowel, Gastroesophageal reflux, Cleft palate |
OMIM:194190 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
|
OMIM:618270 |