{"Name":"Lissencephaly","DiseaseID__c":"GARD:0012291","id":12291,"encodedName":"lissencephaly","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly","Xref_IDs__c":"204036008; 423022795; C0266463; C103921; D054082; DOID:0050453; HP:0001339; MEDGEN:78604; MONDO:0018838; OMIMPS:607432; ORPHA:48471","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018838","Disease_Description__c":"The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis.","GARD_Name__c":"Lissencephaly","GARD_Synonym__c":"fewer or absent grooves in brain; lissencephaly (disease); lissencephaly pachygyria; lissencephaly spectrum disorders","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Lissencephaly is a term that covers a group of diseases that affect the way the brain looks.  People with lissencephaly have a lack of brain convolutions (folds), which affects the way the brain works. This happens because of issues with neurons not properly migrating during the development of the brain before birth.","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:48471","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018838","ORPHANET_ID__c":"ORPHA:48471","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia","Spanish_Description_Source__c":"ORPHA:48471","Spanish_Description__c":"Este término no caracteriza una enfermedad sino un grupo de enfermedades. Para conocer las enfermedades incluidas bajo este término, puede consultar las clasificaciones.","Spanish_Disease_Name__c":"lisencefalia","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":"Lissencephaly is a term that covers a group of diseases that affect the way the brain looks.  People with lissencephaly have a lack of brain convolutions (folds), which affects the way the brain works. This happens because of issues with neurons not properly migrating during the development of the brain before birth.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"fewer or absent grooves in brain; lissencephaly (disease); lissencephaly pachygyria; lissencephaly spectrum disorders","Name":"Lissencephaly","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Fundación 1000 sobre defectos congénitos","Website__c":"http://www.fundacion1000.es/"}],"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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:48471"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:48471"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204036008","Source__c":"C0266463; MONDO:0018838","Xref__c":"204036008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C103921","Source__c":"C0266463; MONDO:0018838","Xref__c":"C103921"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78604","Source__c":"C0266463","Xref__c":"MEDGEN:78604"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS607432","Source__c":"MONDO:0018838","Xref__c":"OMIMPS:607432"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050453","Source__c":"MONDO:0018838","Xref__c":"DOID:0050453"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0266463","Source__c":"C0266463","Xref__c":"C0266463"},{"URL__c":"https://www.orpha.net/en/disease/detail/48471","Source__c":"C0266463; MONDO:0018838; ORPHA:48471","Xref__c":"ORPHA:48471"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054082","Source__c":"C0266463; MONDO:0018838","Xref__c":"D054082"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001339","Source__c":"C0266463","Xref__c":"HP:0001339"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018838","Source__c":"GARD:0012291","Xref__c":"MONDO:0018838"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022795","Xref__c":"423022795"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["fewer or absent grooves in brain"," lissencephaly (disease)"," lissencephaly pachygyria"," lissencephaly spectrum disorders"],"spanishId":13705,"spanishName":"lisencefalia"}