Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Mungan Syndrome |
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Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
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Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Visceral Myopathy 1 |
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Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
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Gastroparesis, Facial palsy, Constipation, Gastroesophageal reflux, Failure to thrive |
OMIM:610131 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
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Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
Al Amyloidosis |
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Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... |
ORPHA:85443 |
Bile Acid Malabsorption, Primary, 1 |
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Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Immunodeficiency 77 |
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Gastroparesis |
OMIM:619223 |
Diarrhea 9 |
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Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Young-Onset Parkinson Disease |
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Gastroparesis, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Nausea |
ORPHA:2828 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Intestinal pseudo-obstruction, Gastroparesis |
ORPHA:70595 |
Proximal Spinal Muscular Atrophy |
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Gastroparesis, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia, Poor suck |
ORPHA:70 |
Chops Syndrome |
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Gastroparesis, High, narrow palate, Optic atrophy, Obesity, Constipation, Gastroesophageal reflux |
OMIM:616368 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Polymicrogyria, Gastroparesis, Bowel incontinence |
OMIM:618877 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
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Neonatal death, Failure to thrive, Small for gestational age, Gastroparesis |
OMIM:614052 |
Secondary Short Bowel Syndrome |
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Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Prader-Willi Syndrome |
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Gastroparesis, Nasogastric tube feeding in infancy, Perisylvian polymicrogyria, Xerostomia, Abdom... |
ORPHA:739 |
Mgat2-Cdg |
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Gastroparesis, Feeding difficulties, Gastroesophageal reflux, Failure to thrive, Gastrostomy tube... |
ORPHA:79329 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Small for gestational age, Gastroparesis, Feeding difficulties in infancy, Perisylvian polymicrog... |
ORPHA:98754 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Optic nerve hypop... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Optic nerve hypop... |
ORPHA:352665 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Small for gestational age, Gastroparesis, Feeding difficulties in infancy, Perisylvian polymicrog... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Small for gestational age, Gastroparesis, Feeding difficulties in infancy, Perisylvian polymicrog... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Small for gestational age, Gastroparesis, Feeding difficulties in infancy, Perisylvian polymicrog... |
ORPHA:177901 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Gastroparesis, Weight loss, Intestinal pseudo-obstruction, Dysphagia |
OMIM:607459 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Gastroparesis, Facial palsy, Dysphagia |
OMIM:157640 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Gastroparesis, Facial palsy, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia, F... |
ORPHA:254892 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Gastroparesis, Paralytic ileus, Constipation, Abnormal autonomic nervous... |
ORPHA:139417 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Occipital Horn Syndrome |
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Gastroparesis, Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Esophagitis, Dysphagi... |
ORPHA:198 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Failure to thrive in infancy, Gastroparesis, Optic nerve hypoplasia, Feeding difficulties in infa... |
ORPHA:500150 |
Eosinophilic Gastroenteritis |
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Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... |
ORPHA:2070 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Alpha-Heavy Chain Disease |
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Abnormal small intestine morphology, Abdominal pain, Malabsorption |
ORPHA:100025 |
Vascular Hyalinosis |
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Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Cardiospondylocarpofacial Syndrome |
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Feeding difficulties, Failure to thrive, Gastroesophageal reflux, Gastroparesis |
OMIM:157800 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
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High, narrow palate, Nasogastric tube feeding |
OMIM:617268 |