{"Name":"Autism-facial port-wine stain syndrome","DiseaseID__c":"GARD:0010303","id":10303,"encodedName":"autism-facial-port-wine-stain-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autism-facial port-wine stain syndrome","Xref_IDs__c":"CN278424; MEDGEN:962169; MONDO:0015311","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":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015311","Disease_Description__c":"This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions.","GARD_Name__c":"Autism-facial port-wine stain syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0015311","Curated_Disease_Description__c":"This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:137911","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015311","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"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":"This syndrome is characterized by the presence of a unilateral angioma on the face and autistic developmental problems characterized by language delay and atypical social interactions.","Curated_Disease_Description_Source__c":"MONDO:0015311","Name":"Autism-facial port-wine stain syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Organization for Autism Research","Website__c":"https://researchautism.org/"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015311","Source__c":"GARD:0010303","Xref__c":"MONDO:0015311"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=962169","Source__c":"CN278424","Xref__c":"MEDGEN:962169"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN278424","Source__c":"CN278424","Xref__c":"CN278424"}],"tags":{},"synonyms":[""]}