{"Name":"Moynahan syndrome","DiseaseID__c":"GARD:0000606","id":606,"encodedName":"moynahan-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Moynahan syndrome","Xref_IDs__c":"C0265328; C537052; MEDGEN:120535; MONDO:0008755; OMIM:203600","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":0,"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:2574","Disease_Description__c":"A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.","GARD_Name__c":"Moynahan syndrome","GARD_Synonym__c":"alopecia-epilepsy-intellectual disability syndrome, moynahan type; alopecia, epilepsy, intellectual disability syndrome moynahan type; moynahan alopecia syndrome; moynahan's syndrome","Curated_Disease_Description_Source__c":"ORPHA:2574","Curated_Disease_Description__c":"A rare, genetic, epilepsy syndrome characterised by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2574","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008755","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:2574","Spanish_Description__c":"Es un síndrome epiléptico genético y poco frecuente caracterizado por alopecia congénita, epilepsia de inicio temprano, discapacidad intelectual y retraso del habla. Este síndrome también asocia talla alta, retraso del desarrollo óseo y anomalías en el electroencefalograma.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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, genetic, epilepsy syndrome characterised by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.","Curated_Disease_Description_Source__c":"ORPHA:2574","GARD_Synonym__c":"alopecia-epilepsy-intellectual disability syndrome, moynahan type; alopecia, epilepsy, intellectual disability syndrome moynahan type; moynahan alopecia syndrome; moynahan's syndrome","Name":"Moynahan syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537052","Source__c":"MONDO:0008755","Xref__c":"C537052"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120535","Source__c":"C0265328","Xref__c":"MEDGEN:120535"},{"URL__c":"https://www.omim.org/entry/203600","Source__c":"C0265328; MONDO:0008755","Xref__c":"OMIM:203600"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265328","Source__c":"C0265328","Xref__c":"C0265328"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=788417006","Source__c":"C0265328","Xref__c":"788417006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008755","Source__c":"GARD:0000606","Xref__c":"MONDO:0008755"}],"tags":{},"synonyms":["alopecia-epilepsy-intellectual disability syndrome, moynahan type"," alopecia, epilepsy, intellectual disability syndrome moynahan type"," moynahan alopecia syndrome"," moynahan's syndrome"]}