Achalasia-Microcephaly Syndrome |
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Achalasia |
OMIM:200450 |
Visceral Myopathy 2 |
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Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... |
OMIM:619350 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
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Achalasia |
ORPHA:2400 |
Deafness-Vitiligo-Achalasia Syndrome |
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Achalasia |
ORPHA:3239 |
Mungan Syndrome |
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Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Barrett esophagus, Hypoperistalsis,... |
OMIM:611376 |
Deafness, Congenital, With Vitiligo And Achalasia |
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Achalasia |
OMIM:221350 |
Achalasia-Microcephaly Syndrome |
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Achalasia |
ORPHA:929 |
Achalasia, Familial Esophageal |
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Achalasia, Xerostomia |
OMIM:200400 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Moyamoya Disease 6 With Or Without Achalasia |
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Achalasia, Dysphagia |
OMIM:615750 |
Immunodeficiency 70 |
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Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Achalasia |
OMIM:300858 |
Dystonia-Deafness Syndrome 1 |
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Achalasia, Dysphagia, Pseudobulbar paralysis |
OMIM:607371 |
Tetrasomy 18P |
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Achalasia |
ORPHA:3307 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Esophageal neoplasm, Dyspepsia, Gastroesophageal reflux, Nasogastric tube feeding, Abnormal gastr... |
ORPHA:1018 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Abdominal distention, Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotati... |
ORPHA:2241 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
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Achalasia |
ORPHA:436174 |
Triple A Syndrome |
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Achalasia |
ORPHA:869 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Achalasia, Dysphagia |
ORPHA:289483 |
Congenital Short Bowel Syndrome |
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Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C... |
OMIM:615237 |
Scleromyxedema |
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Hypoperistalsis, Dysphagia, Gastroesophageal reflux, Abnormality of the gastrointestinal tract |
ORPHA:167635 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Achalasia, Dysphagia |
ORPHA:79107 |
American Trypanosomiasis |
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Aganglionic megacolon, Diarrhea, Abnormal large intestine physiology, Abdominal pain, Achalasia |
ORPHA:3386 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Gastroesophageal reflux, Small intestinal dysmotility, Ineffective esophageal peristalsis, Dyspha... |
OMIM:619482 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Achalasia |
OMIM:609033 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency |
OMIM:615952 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Achalasia, Feeding difficulties, Gastroesophageal reflux |
OMIM:600987 |
Smooth Muscle Dysfunction Syndrome |
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Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Glucocorticoid Deficiency 2 |
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Achalasia |
OMIM:607398 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
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Esophageal food impaction, Esophageal atresia, Eosinophilic microabscess formation in the esophag... |
ORPHA:411696 |
Oculogastrointestinal Muscular Dystrophy |
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Abdominal distention, Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo... |
ORPHA:1876 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
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Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri... |
OMIM:277320 |
Mirage Syndrome |
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Chronic diarrhea, Achalasia, Esophageal stricture, Gastroesophageal reflux |
OMIM:617053 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Ineffective esophageal peristalsis, Aganglionic megacolon, Feeding difficulties, Chronic constipa... |
OMIM:209880 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Achalasia, Esophageal stenosis, Dysphagia, Feeding difficulties |
OMIM:615510 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Achalasia |
OMIM:231550 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Achalasia, Esophagitis, Feeding difficulties |
OMIM:615356 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Achalasia |
OMIM:616007 |
Visceral Myopathy 1 |
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Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Gas... |
OMIM:155310 |
Cystic Fibrosis, Modifier Of, 1 |
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Meconium ileus |
OMIM:603855 |
Meconium Ileus |
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Chronic diarrhea, Meconium ileus, Microcolon |
OMIM:614665 |
Fabry Disease |
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Anorexia, Abdominal pain, Malabsorption, Nausea and vomiting, Achalasia |
ORPHA:324 |