Polyposis of gastric fundus without polyposis coli |
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Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:265950 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
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Absence of intrinsic factor |
OMIM:243320 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology |
ORPHA:2978 |
Serrated Polyposis Syndrome |
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Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... |
ORPHA:157798 |
Hyperekplexia 2 |
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Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Hyperekplexia 3 |
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Gastroesophageal reflux, Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Thrombocytopenia, Paris-Trousseau Type |
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Pyloric stenosis, Radial deviation of finger, Clinodactyly |
OMIM:188025 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
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Rocker bottom foot, Short 5th finger, Pyloric stenosis, Congenital hip dislocation |
OMIM:133705 |
Alpha-1-Antitrypsin Deficiency |
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Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:612138 |
Nk-Cell Enteropathy |
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Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... |
ORPHA:263665 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
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Pyloric stenosis, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Camptodac... |
OMIM:614262 |
Microgastria-Limb Reduction Defect Syndrome |
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Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla... |
ORPHA:2538 |
Ménétrier Disease |
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Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... |
ORPHA:2494 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
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Pyloric stenosis, Clinodactyly of the 5th finger, Tapered finger, Hip dysplasia |
OMIM:617219 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
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Pyloric stenosis |
OMIM:179010 |
Syndromic Recessive X-Linked Ichthyosis |
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Abnormal stomach morphology |
ORPHA:281090 |
Intrinsic Factor Deficiency |
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Absence of intrinsic factor |
OMIM:261000 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... |
ORPHA:1876 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Epidermolysis Bullosa, Junctional 1B, Severe |
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Pyloric stenosis, Syndactyly |
OMIM:226700 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... |
OMIM:161700 |
Bronchogenic Cyst |
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Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
Periventricular Nodular Heterotopia |
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Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux |
ORPHA:98892 |
Systemic Sclerosis |
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Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Osteolytic defects of the... |
ORPHA:90291 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Oculogyric crisis, Gastroesophageal reflux, Athetosis, Blepharospasm, Limb dystonia,... |
OMIM:608643 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
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Gastric varix, Esophageal varix, Clubbing |
OMIM:620367 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... |
OMIM:300048 |
Ornithine Transcarbamylase Deficiency |
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Pyloric stenosis |
ORPHA:664 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Clinodactyly of the 5th finger, Tremor, High palate, Exaggerated startle resp... |
OMIM:618056 |
Metachromatic Leukodystrophy |
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Neoplasm of the gallbladder, Tremor, Dystonia, Abnormal duodenum morphology, Abnormal stomach mor... |
ORPHA:512 |
Hyperekplexia 1 |
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Exaggerated startle response, Hip dislocation |
OMIM:149400 |
Craniorachischisis |
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Anal atresia, Bifid sternum |
ORPHA:63260 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Congenital pyloric atresia |
ORPHA:2617 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Overlapping toe, Exaggerated startle response |
OMIM:618598 |
Gm1 Gangliosidosis Type 1 |
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Spatulate ribs, Broad long bone diaphyses, Short long bone, Broad metacarpals, Flared iliac wing,... |
ORPHA:79255 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:620114 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Hip contracture, Dysphagia, Overlapping toe, Hip dislocation |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Hepatoportal Sclerosis |
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Gastric varix, Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma |
ORPHA:64743 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:608800 |
Plaa-Associated Neurodevelopmental Disorder |
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Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polydactyly, High pal... |
ORPHA:521426 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Dubin-Johnson Syndrome |
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Abnormal gastric mucosa morphology |
ORPHA:234 |
Ulnar-Mammary Syndrome |
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Abnormal metacarpal morphology, Abnormal finger morphology, Ectopic anus, Postaxial hand polydact... |
ORPHA:3138 |
Congenital Tracheal Stenosis |
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Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... |
ORPHA:141127 |
Osteogenesis Imperfecta, Type X |
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Genu valgum, Fibular bowing, Thin ribs, Tibial bowing, Bowing of the long bones, Pyloric stenosis... |
OMIM:613848 |
Stiff-Person Syndrome |
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Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Postaxial Acrofacial Dysostosis |
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Hypoplasia of the ulna, Hypoplasia of the radius, Midgut malrotation, Congenital hip dislocation,... |
OMIM:263750 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Reynolds Syndrome |
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Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux |
ORPHA:779 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Rocker bottom foot, High palate, Exaggerated startle response, Postaxial polydactyly, Long finger... |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, High palate, Exaggerated startle response |
ORPHA:438216 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Ulnar-Mammary Syndrome |
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Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short... |
OMIM:181450 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Esophageal Atresia |
|
Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal... |
ORPHA:1199 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Tay-Sachs Disease |
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Tremor, Exaggerated startle response, Dystonia, Dysphagia, Laryngeal dystonia |
ORPHA:845 |
Sandhoff Disease |
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Macroglossia, Exaggerated startle response |
OMIM:268800 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Asparagine Synthetase Deficiency |
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Gastroesophageal reflux, Tremor, Exaggerated startle response |
OMIM:615574 |
Coffin-Lowry Syndrome |
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Narrow palate, Rectal prolapse, Bifid sternum, Hyperextensibility of the finger joints, Narrow il... |
OMIM:303600 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Short humerus, Dysphagia, Short femur, Tapered finger |
OMIM:618367 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Viss Syndrome |
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Rocker bottom foot, Intestinal malrotation, Arachnodactyly, Malposition of the stomach, Bifid uvu... |
OMIM:619472 |
Hardikar Syndrome |
|
Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilater... |
OMIM:301068 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Exaggerated startle response |
OMIM:620423 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Intestinal atresia, Congenital pyloric atresia |
ORPHA:79403 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Short finger, Clinodactyly of the 5th finger, Broad toe, High palate, Short foot, Exaggerated sta... |
OMIM:619522 |
Williams Syndrome |
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Peptic ulcer, Rectal prolapse, Genu valgum, Clinodactyly of the 5th finger, Gastroesophageal refl... |
ORPHA:904 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Gastroesophageal reflux, Exaggerated startle response, Dystonia, Dysphagia, Hip dysplasia |
ORPHA:438213 |