{"Name":"Benign familial nocturnal alternating hemiplegia of childhood","DiseaseID__c":"GARD:0020445","id":20445,"encodedName":"benign-familial-nocturnal-alternating-hemiplegia-of-childhood","IsDeleted":false,"Disease_Name_Full__c":"Benign familial nocturnal alternating hemiplegia of childhood","Xref_IDs__c":"C4749822; MEDGEN:1668716; MONDO:0016209; ORPHA:209973","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016209","Disease_Description__c":"Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.","GARD_Name__c":"Benign familial nocturnal alternating hemiplegia of childhood","GARD_Synonym__c":"benign familial nocturnal alternating hemiplegia in childhood; benign nocturnal alternating hemiplegia of childhood","Curated_Disease_Description_Source__c":"MONDO:0016209","Curated_Disease_Description__c":"Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:209973","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016209","ORPHANET_ID__c":"ORPHA:209973","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemiplejía alternante nocturna benigna de la infancia","Spanish_Description_Source__c":"ORPHA:209973","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por ataques recurrentes de gritos o llantos nocturnos seguidos o acompañados por hemiplejia unilateral o, en ocasiones, bilateral. El trastorno no se asocia a alteraciones neurológicas o del desarrollo pero puede asociarse a leves trastornos de conducta.","Spanish_Disease_Name__c":"hemiplejía alternante nocturna benigna de la infancia","Spanish_GARD_Synonym__c":null,"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":"Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities.","Curated_Disease_Description_Source__c":"MONDO:0016209","GARD_Synonym__c":"benign familial nocturnal alternating hemiplegia in childhood; benign nocturnal alternating hemiplegia of childhood","Name":"Benign familial nocturnal alternating hemiplegia of childhood","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Childhood","Provided_By__c":"ORPHA:209973"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:209973"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749822","Source__c":"C4749822","Xref__c":"C4749822"},{"URL__c":"https://www.orpha.net/en/disease/detail/209973","Source__c":"C4749822; MONDO:0016209; ORPHA:209973","Xref__c":"ORPHA:209973"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1668716","Source__c":"C4749822","Xref__c":"MEDGEN:1668716"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016209","Source__c":"GARD:0020445","Xref__c":"MONDO:0016209"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771304005","Source__c":"C4749822","Xref__c":"771304005"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["benign familial nocturnal alternating hemiplegia in childhood"," benign nocturnal alternating hemiplegia of childhood"]}