{"Name":"Neural tube defect","DiseaseID__c":"GARD:0018796","id":18796,"encodedName":"neural-tube-defect","IsDeleted":false,"Disease_Name_Full__c":"Neural tube defect","Xref_IDs__c":"253098009; C0027794; C84923; D009436; DOID:0080074; HP:0045005; MEDGEN:18009; MONDO:0018075; ORPHA:3388","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"5,000,000 to 7,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018075","Disease_Description__c":"A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.","GARD_Name__c":"Neural tube defect","GARD_Synonym__c":"abnormality of neural tube closure; neural tube defects; ntd; ntd - neural tube defect; spinal dysraphism","Curated_Disease_Description_Source__c":"MONDO:0018075","Curated_Disease_Description__c":"Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, Chiari malformation, causes the brain tissue to extend into the spinal canal.\r\n\r\nThe exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you have obesity, have poorly controlled diabetes, take certain antiseizure medicines, getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects.\r\n\r\nNeural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3388","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018075","ORPHANET_ID__c":"ORPHA:3388","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anomalías del tubo neural","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anomalías del tubo neural","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":"Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, Chiari malformation, causes the brain tissue to extend into the spinal canal.\r\n\r\nThe exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you have obesity, have poorly controlled diabetes, take certain antiseizure medicines, getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects.\r\n\r\nNeural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications","Curated_Disease_Description_Source__c":"MONDO:0018075","GARD_Synonym__c":"abnormality of neural tube closure; neural tube defects; ntd; ntd - neural tube defect; spinal dysraphism","Name":"Neural tube defect","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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://www.ncbi.nlm.nih.gov/mesh/C009436","Source__c":"C0027794; MONDO:0018075","Xref__c":"D009436"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253098009","Source__c":"C0027794; MONDO:0018075","Xref__c":"253098009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18009","Source__c":"C0027794","Xref__c":"MEDGEN:18009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0027794","Source__c":"C0027794","Xref__c":"C0027794"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84923","Source__c":"C0027794; MONDO:0018075","Xref__c":"C84923"},{"URL__c":"https://www.orpha.net/en/disease/detail/3388","Source__c":"C0027794; MONDO:0018075; ORPHA:3388","Xref__c":"ORPHA:3388"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080074","Source__c":"MONDO:0018075","Xref__c":"DOID:0080074"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018075","Source__c":"GARD:0018796","Xref__c":"MONDO:0018075"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0045005","Source__c":"C0027794","Xref__c":"HP:0045005"},{"URL__c":"https://www.nichd.nih.gov/health/topics/ntds"},{"URL__c":"https://medlineplus.gov/neuraltubedefects.html"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology"]},"synonyms":["abnormality of neural tube closure"," neural tube defects"," ntd"," ntd - neural tube defect"," spinal dysraphism"]}