{"Name":"Myelomeningocele","DiseaseID__c":"GARD:0003475","id":3475,"encodedName":"myelomeningocele","IsDeleted":false,"Disease_Name_Full__c":"Myelomeningocele","Xref_IDs__c":"414667000; C0025312; C101201; D008591; DOID:0060326; HP:0002475; MEDGEN:7538; MONDO:0019773; ORPHA:93969","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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019773","Disease_Description__c":"Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.","GARD_Name__c":"Myelomeningocele","GARD_Synonym__c":"hydromeningomyelocele; hydromyelomeningocele","Curated_Disease_Description_Source__c":"GARD:0003475","Curated_Disease_Description__c":"Myelomeningocele occurs when the spine and spinal cord do not form correctly during early development, causing a condition known as spina bifida. Myelomeningocele is the most serious form of spina bifida. It happens when parts of the spinal cord and nerves pop out through the open part of the spine. This leads to spinal cord and spinal nerve damage and other disabilities. Symptoms of a Myelomeningocele include a decreased ability to feel sensation below the opening in the spine. Other symptoms include decreased leg movement and the inability to control the bladder and bowels. Many children with this condition develop too much fluid around the brain (hydrocephalus). The cause of Myelomeningocele is unknown. Both genetic and environmental factors are thought to be involved. Low levels of folic acid during early pregnancy are known to contribute to the occurrence of spina bifida and Myelomeningocele. During pregnancy, Myelomeningocele is often diagnosed due to an abnormal alpha fetoprotein screening test. Imaging studies such as a fetal ultrasound done during pregnancy or an MRI or CT scan done after birth are also used.","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:93969","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019773","ORPHANET_ID__c":"ORPHA:93969","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Disrafismo espinal abierto con mielomeningocele","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"disrafismo espinal abierto con mielomeningocele","Spanish_GARD_Synonym__c":"mielomeningocele; mmc","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":"Myelomeningocele occurs when the spine and spinal cord do not form correctly during early development, causing a condition known as spina bifida. Myelomeningocele is the most serious form of spina bifida. It happens when parts of the spinal cord and nerves pop out through the open part of the spine. This leads to spinal cord and spinal nerve damage and other disabilities. Symptoms of a Myelomeningocele include a decreased ability to feel sensation below the opening in the spine. Other symptoms include decreased leg movement and the inability to control the bladder and bowels. Many children with this condition develop too much fluid around the brain (hydrocephalus). The cause of Myelomeningocele is unknown. Both genetic and environmental factors are thought to be involved. Low levels of folic acid during early pregnancy are known to contribute to the occurrence of spina bifida and Myelomeningocele. During pregnancy, Myelomeningocele is often diagnosed due to an abnormal alpha fetoprotein screening test. Imaging studies such as a fetal ultrasound done during pregnancy or an MRI or CT scan done after birth are also used.","Curated_Disease_Description_Source__c":"GARD:0003475","GARD_Synonym__c":"hydromeningomyelocele; hydromyelomeningocele","Name":"Myelomeningocele","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spina Bifida Association","Website__c":"https://www.spinabifidaassociation.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93969"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93969"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=414667000","Source__c":"C0025312; MONDO:0019773","Xref__c":"414667000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060326","Source__c":"MONDO:0019773","Xref__c":"DOID:0060326"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0025312","Source__c":"C0025312","Xref__c":"C0025312"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C008591","Source__c":"C0025312; MONDO:0019773","Xref__c":"D008591"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7538","Source__c":"C0025312","Xref__c":"MEDGEN:7538"},{"URL__c":"https://www.orpha.net/en/disease/detail/93969","Source__c":"C0025312; MONDO:0019773","Xref__c":"ORPHA:93969"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002475","Source__c":"C0025312","Xref__c":"HP:0002475"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019773","Source__c":"GARD:0003475","Xref__c":"MONDO:0019773"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C101201","Source__c":"C0025312","Xref__c":"C101201"}],"Inheritance__c":["Non-Mendelian inheritance"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["hydromeningomyelocele"," hydromyelomeningocele"]}