{"Name":"Neurenteric cyst","DiseaseID__c":"GARD:0020975","id":20975,"encodedName":"neurenteric-cyst","IsDeleted":false,"Disease_Name_Full__c":"Neurenteric cyst","Xref_IDs__c":"41353005; 789120001; C0027806; HP:0030725; MEDGEN:14343; MONDO:0017087; ORPHA:268865","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:268865","Disease_Description__c":"A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.","GARD_Name__c":"Neurenteric cyst","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:268865","Curated_Disease_Description__c":"A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:268865","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017087","ORPHANET_ID__c":"ORPHA:268865","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Quiste neuroentérico","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"quiste neuroentérico","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord. Histopathology reveals columnar or cuboidal epithelium with or without cilia and mucus globules. Patients may be asymptomatic or present with signs and symptoms of compression of the spinal cord and associated nerve roots, such as focal weakness, progressive paresis, paresthesias, gait disturbance, or radicular pain. Concomitant congenital vertebral anomalies are frequently observed.","Curated_Disease_Description_Source__c":"ORPHA:268865","Name":"Neurenteric cyst","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:268865"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:268865"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/268865","Source__c":"C0027806; MONDO:0017087; ORPHA:268865","Xref__c":"ORPHA:268865"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027806","Source__c":"C0027806","Xref__c":"C0027806"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=14343","Source__c":"C0027806","Xref__c":"MEDGEN:14343"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030725","Source__c":"C0027806","Xref__c":"HP:0030725"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=789120001","Source__c":"C0027806","Xref__c":"789120001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=41353005","Source__c":"C0027806","Xref__c":"41353005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017087","Source__c":"GARD:0020975","Xref__c":"MONDO:0017087"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":[""]}