Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
Hyperekplexia 2 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614619 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Hyperekplexia 3 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614618 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Clinodactyly, Radial deviation of finger |
OMIM:188025 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis, Congenital hip dislocation, Short 5th finger, Rocker bottom foot |
OMIM:133705 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Aplastic clavicle,... |
ORPHA:2538 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Overlapping toe, Camptodac... |
OMIM:614262 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Pyloric stenosis, Hip dysplasia, Tapered finger |
OMIM:617219 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis, Syndactyly |
OMIM:226700 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Foot acroosteolysis, Pe... |
OMIM:161700 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux |
ORPHA:98892 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Abnormal phalange... |
ORPHA:90291 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, High palate, Clinodactyly of the 5th fi... |
OMIM:618056 |
Craniorachischisis |
|
Bifid sternum, Anal atresia |
ORPHA:63260 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spatulate ribs, Macroglossia, Flared iliac wing, Short long bone, D... |
ORPHA:79255 |
Metachromatic Leukodystrophy |
|
Dystonia, Abnormal stomach morphology, Tremor, Neoplasm of the gallbladder, Abnormal duodenum mor... |
ORPHA:512 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hip dislocation |
OMIM:149400 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia |
ORPHA:2617 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Overlapping toe |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Gastroesophageal reflux |
OMIM:620114 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Overlapping toe, Hip dislocation, Dysphagia |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Long f... |
ORPHA:521426 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Gastroesophageal reflux |
OMIM:608800 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s... |
ORPHA:3138 |
Muir-Torre Syndrome |
|
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Bowing of the long bones, Short femur, Pyloric stenosis, Tibial bowing, T... |
OMIM:613848 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Pyloric stenosis, Midgut malrotat... |
OMIM:263750 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Long fingers, High palat... |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, High palate, Dystonia |
ORPHA:438216 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... |
ORPHA:1199 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Dysphagia, Dystonia, Laryngeal dystonia |
ORPHA:845 |
Sandhoff Disease |
|
Macroglossia, Exaggerated startle response |
OMIM:268800 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Gastroesophageal reflux |
OMIM:615574 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Dysphagia |
OMIM:618367 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... |
OMIM:301068 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, High palate, Sh... |
OMIM:619522 |
Williams Syndrome |
|
Colonic diverticula, Hallux valgus, Peptic ulcer, Down-sloping shoulders, Malabsorption, Tremor, ... |
ORPHA:904 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dysphagia, Hip dysplasia, Gastroesophageal reflux, Dystonia |
ORPHA:438213 |