{"Name":"Isolated focal cortical dysplasia type II","DiseaseID__c":"GARD:0010190","id":10190,"encodedName":"isolated-focal-cortical-dysplasia-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Isolated focal cortical dysplasia type II","Xref_IDs__c":"C1846385; C201593; C537067; MEDGEN:339510; MONDO:0011818; OMIM:607341; ORPHA:268994","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":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:268994","Disease_Description__c":null,"GARD_Name__c":"Isolated focal cortical dysplasia type II","GARD_Synonym__c":"cortical dysplasia of taylor; cortical dysplasia, taylor type; fcd type ii; fcord2; focal cortical dysplasia type ii; focal cortical dysplasia, type ii, somatic; isolated focal cortical dysplasia type 2","Curated_Disease_Description_Source__c":"OMIM:607341","Curated_Disease_Description__c":"Isolated focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB. Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:268994","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011818","ORPHANET_ID__c":"ORPHA:268994","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia cortical focal aislada tipo ii","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia cortical focal aislada tipo ii","Spanish_GARD_Synonym__c":"displasia cortical focal aislada tipo 2; displasia cortical tipo taylor; fcd tipo ii","Category_Linearization__c":"ORPHA:98006","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":"Isolated focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB. Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity.","Curated_Disease_Description_Source__c":"OMIM:607341","GARD_Synonym__c":"cortical dysplasia of taylor; cortical dysplasia, taylor type; fcd type ii; fcord2; focal cortical dysplasia type ii; focal cortical dysplasia, type ii, somatic; isolated focal cortical dysplasia type 2","Name":"Isolated focal cortical dysplasia type II","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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/607341","Source__c":"C1846385; MONDO:0011818; ORPHA:268994","Xref__c":"OMIM:607341"},{"URL__c":"https://www.orpha.net/en/disease/detail/268994","Source__c":"C1846385; MONDO:0011818","Xref__c":"ORPHA:268994"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537067","Source__c":"MONDO:0011818","Xref__c":"C537067"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846385","Source__c":"C1846385","Xref__c":"C1846385"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=339510","Source__c":"C1846385","Xref__c":"MEDGEN:339510"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003461002","Source__c":"C1846385","Xref__c":"1003461002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011818","Source__c":"GARD:0010190","Xref__c":"MONDO:0011818"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C201593","Source__c":"C1846385","Xref__c":"C201593"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0032051","Source__c":"C1846385","Xref__c":"HP:0032051"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TSC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tsc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MTOR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mtor","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Description__c":"Proliferation of astrocytes in the area of a lesion of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002446","HPO_Name__c":"Astrocytosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Description__c":"Enlargement of all or parts of one cerebral hemisphere.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007206","HPO_Name__c":"Hemimegalencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001269","HPO_Synonym__c":"Weakness of one side of body","HPO_Name__c":"Hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Description__c":"A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032051","HPO_Name__c":"Focal cortical dysplasia type II","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007042","HPO_Name__c":"Focal white matter lesions","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the cerebral cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002539","HPO_Synonym__c":"Neocortical dysplasia","HPO_Name__c":"Cortical dysplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607341","Feature__r":{"HPO_Description__c":"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002384","HPO_Synonym__c":"Complex focal seizures; Complex partial seizure; Complex partial seizures; Dyscognitive seizures; Focal dyscognitive seizure; Focal impaired awareness seizures; Focal seizure with impairment of awareness; Focal seizure with loss of awareness; Focal seizures with impairment of consciousness or awareness; Localised dyscognitive seizure; Localised seizure with impaired awareness; Localised seizure with loss of awareness; Localized dyscognitive seizure; Localized seizure with impaired awareness; Localized seizure with loss of awareness; Partial dyscognitive seizure; Partial seizure with impairment of awareness; Partial seizure with loss of awareness","HPO_Name__c":"Focal impaired awareness seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy"],"Account":["Epilepsy"]},"synonyms":["cortical dysplasia of taylor"," cortical dysplasia, taylor type"," fcd type ii"," fcord2"," focal cortical dysplasia type ii"," focal cortical dysplasia, type ii, somatic"," isolated focal cortical dysplasia type 2"]}