{"Name":"Sandifer syndrome","DiseaseID__c":"GARD:0009684","id":9684,"encodedName":"sandifer-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Sandifer syndrome","Xref_IDs__c":"230314007; C0338465; C113397; C537234; MEDGEN:90922; MONDO:0019104; ORPHA:71272","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019104","Disease_Description__c":"Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.","GARD_Name__c":"Sandifer syndrome","GARD_Synonym__c":"sandifer's syndrome","Curated_Disease_Description_Source__c":"MONDO:0019104","Curated_Disease_Description__c":"Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:71272","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019104","ORPHANET_ID__c":"ORPHA:71272","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sandifer","Spanish_Description_Source__c":"ORPHA:71272","Spanish_Description__c":"El síndrome de Sandifer es un trastorno que provoca movimientos distónicos paroxísticos en asociación con el reflujo gastroesofágico y, en algunos casos, con la hernia de hiato.","Spanish_Disease_Name__c":"síndrome de sandifer","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.","Curated_Disease_Description_Source__c":"MONDO:0019104","GARD_Synonym__c":"sandifer's syndrome","Name":"Sandifer syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:71272"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:71272"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:71272"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C113397","Source__c":"C0338465; MONDO:0019104","Xref__c":"C113397"},{"URL__c":"https://www.orpha.net/en/disease/detail/71272","Source__c":"C0338465; MONDO:0019104; ORPHA:71272","Xref__c":"ORPHA:71272"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=230314007","Source__c":"C0338465; MONDO:0019104","Xref__c":"230314007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537234","Source__c":"MONDO:0019104","Xref__c":"C537234"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0338465","Source__c":"C0338465","Xref__c":"C0338465"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90922","Source__c":"C0338465","Xref__c":"MEDGEN:90922"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019104","Source__c":"GARD:0009684","Xref__c":"MONDO:0019104"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The vomiting of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002248","HPO_Synonym__c":"Vomiting blood","HPO_Name__c":"Hematemesis","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paroxysmal, recurrent episodes of vomiting.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002572","HPO_Synonym__c":"Episodic vomiting","HPO_Name__c":"Episodic vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002457","HPO_Synonym__c":"Abnormal head movements","HPO_Name__c":"Abnormal head movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002036","HPO_Synonym__c":"Hiatal hernia; Stomach hernia","HPO_Name__c":"Hiatus hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anomalous movements of the eyes that occur without the subject wanting them to happen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012547","HPO_Name__c":"Abnormal involuntary eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004637","HPO_Synonym__c":"Limited neck movement","HPO_Name__c":"Decreased cervical spine mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100633","HPO_Synonym__c":"Inflammation of the esophagus; Oesophagitis","HPO_Name__c":"Esophagitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain that is localized to the region of the upper abdomen immediately below the ribs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410019","HPO_Synonym__c":"Epigastrium pain","HPO_Name__c":"Epigastric pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000473","HPO_Synonym__c":"Cervical dystonia; Loxia; Spasmodic torticollis; Wry neck","HPO_Name__c":"Torticollis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:71272","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary flexion or extension of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002533","HPO_Name__c":"Abnormal posturing","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Gastroenterology"],"Specialist":["Genetics","Neurology","Gastroenterology","Pediatrics"]},"synonyms":["sandifer's syndrome"]}