{"Name":"Meningoencephalocele","DiseaseID__c":"GARD:0020968","id":20968,"encodedName":"meningoencephalocele","IsDeleted":false,"Disease_Name_Full__c":"Meningoencephalocele","Xref_IDs__c":"52330001; C0266456; C124517; C124557; HP:0006888; MEDGEN:82743; MONDO:0017079; ORPHA:268820","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017079","Disease_Description__c":"A congenital abnormality in which the meninges protrude through a defect in the cranium.","GARD_Name__c":"Meningoencephalocele","GARD_Synonym__c":"brain meninx cephalocele (disease); cephalocele (disease) of brain meninx; cranial meningocele; encephalomeningocele; hydrencephalomeningocele","Curated_Disease_Description_Source__c":"ORPHA:268820","Curated_Disease_Description__c":"A rare central nervous system malformation characterized by herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.","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:268820","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017079","ORPHANET_ID__c":"ORPHA:268820","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Meningocele craneal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"meningocele craneal","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 herniation of meninges through a permanent defect in the skull. It is lined by arachnoid and contains cerebrospinal fluid, but no brain tissue. Signs and symptoms depend on the location of the lesion and are related to mass effect, skull deformities, or leaking of cerebrospinal fluid.","Curated_Disease_Description_Source__c":"ORPHA:268820","GARD_Synonym__c":"brain meninx cephalocele (disease); cephalocele (disease) of brain meninx; cranial meningocele; encephalomeningocele; hydrencephalomeningocele","Name":"Meningoencephalocele","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Children's Craniofacial Association","Website__c":"https://ccakids.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":"Neonatal","Provided_By__c":"ORPHA:268820"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:268820"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=52330001","Source__c":"C0266456; MONDO:0017079","Xref__c":"52330001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266456","Source__c":"C0266456","Xref__c":"C0266456"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82743","Source__c":"C0266456","Xref__c":"MEDGEN:82743"},{"URL__c":"https://www.orpha.net/en/disease/detail/268820","Source__c":"C0266456; MONDO:0017079","Xref__c":"ORPHA:268820"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C124517","Source__c":"MONDO:0017079","Xref__c":"C124517"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C124557","Source__c":"C0266456","Xref__c":"C124557"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017079","Source__c":"GARD:0020968","Xref__c":"MONDO:0017079"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006888","Source__c":"C0266456","Xref__c":"HP:0006888"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["brain meninx cephalocele (disease)"," cephalocele (disease) of brain meninx"," cranial meningocele"," encephalomeningocele"," hydrencephalomeningocele"]}