{"Name":"Primary syringomyelia","DiseaseID__c":"GARD:0019691","id":19691,"encodedName":"primary-syringomyelia","IsDeleted":false,"Disease_Name_Full__c":"Primary syringomyelia","Xref_IDs__c":"371076006; C1299627; MEDGEN:721465; MONDO:0020508; ORPHA:99856","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:99856","Disease_Description__c":"A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.","GARD_Name__c":"Primary syringomyelia","GARD_Synonym__c":"congenital syringomyelia","Curated_Disease_Description_Source__c":"ORPHA:99856","Curated_Disease_Description__c":"A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99856","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020508","ORPHANET_ID__c":"ORPHA:99856","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Siringomielia primaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"siringomielia primaria","Spanish_GARD_Synonym__c":"siringomielia congénita","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 central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities.","Curated_Disease_Description_Source__c":"ORPHA:99856","GARD_Synonym__c":"congenital syringomyelia","Name":"Primary syringomyelia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.org/"},{"Account_Name__c":"American Syringomyelia & Chiari Alliance Project","Website__c":"https://asap.org/"}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1299627","Source__c":"C1299627","Xref__c":"C1299627"},{"URL__c":"https://www.orpha.net/en/disease/detail/99856","Source__c":"C1299627; MONDO:0020508; ORPHA:99856","Xref__c":"ORPHA:99856"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=371076006","Source__c":"C1299627; MONDO:0020508","Xref__c":"371076006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=721465","Source__c":"C1299627","Xref__c":"MEDGEN:721465"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020508","Source__c":"GARD:0019691","Xref__c":"MONDO:0020508"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology"]},"synonyms":["congenital syringomyelia"]}