{"Name":"Amyelia","DiseaseID__c":"GARD:0020976","id":20976,"encodedName":"amyelia","IsDeleted":false,"Disease_Name_Full__c":"Amyelia","Xref_IDs__c":"78784005; C0266510; HP:0100566; MEDGEN:451024; MONDO:0017088; ORPHA:268868","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:268868","Disease_Description__c":"A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.","GARD_Name__c":"Amyelia","GARD_Synonym__c":"absent spinal cord; amyelia (congenital absence of spinal cord); isolated amyelia","Curated_Disease_Description_Source__c":"ORPHA:268868","Curated_Disease_Description__c":"A rare central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.","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:268868","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017088","ORPHANET_ID__c":"ORPHA:268868","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amielia aislada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"amielia aislada","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 central nervous system malformation characterized by congenital absence of the spinal cord, usually associated with segmental bony spinal anomalies. Neurologic deficits depend on the affected segments and the functioning of the residual spinal cord. Typically, the spinal cord appears normal above the defect and bulky, thickened, and low-lying caudally. Clinical presentation includes varying degrees of motor weakness (associated with deformities of the lower limbs) and neurogenic bladder dysfunction.","Curated_Disease_Description_Source__c":"ORPHA:268868","GARD_Synonym__c":"absent spinal cord; amyelia (congenital absence of spinal cord); isolated amyelia","Name":"Amyelia","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":"Neonatal","Provided_By__c":"ORPHA:268868"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:268868"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/268868","Source__c":"MONDO:0017088","Xref__c":"ORPHA:268868"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017088","Source__c":"GARD:0020976","Xref__c":"MONDO:0017088"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=78784005","Source__c":"C0266510","Xref__c":"78784005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266510","Source__c":"C0266510","Xref__c":"C0266510"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=451024","Source__c":"C0266510","Xref__c":"MEDGEN:451024"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100566","Source__c":"C0266510","Xref__c":"HP:0100566"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["absent spinal cord"," amyelia (congenital absence of spinal cord)"," isolated amyelia"]}