{"Name":"Cleft lip-retinopathy syndrome","DiseaseID__c":"GARD:0000435","id":435,"encodedName":"cleft-lip-retinopathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cleft lip-retinopathy syndrome","Xref_IDs__c":"C2931789; C538272; MEDGEN:419494; MONDO:0016051","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016051","Disease_Description__c":"An exceedingly rare association characterized by cleft lip and progressive retinopathy.","GARD_Name__c":"Cleft lip-retinopathy syndrome","GARD_Synonym__c":"ausems wittebol post hennekam syndrome; ausems-wittebol post-hennekam syndrome; cleft lip retinopathy syndrome; cleft lip-cone rod dystrophy syndrome; cleft lip-progressive retinopathy syndrome","Curated_Disease_Description_Source__c":"MONDO:0016051","Curated_Disease_Description__c":"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1995","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016051","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:1995","Spanish_Description__c":"Es una asociación extremadamente infrecuente caracterizada por labio hendido y retinopatía progresiva.","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":"Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy.","Curated_Disease_Description_Source__c":"MONDO:0016051","GARD_Synonym__c":"ausems wittebol post hennekam syndrome; ausems-wittebol post-hennekam syndrome; cleft lip retinopathy syndrome; cleft lip-cone rod dystrophy syndrome; cleft lip-progressive retinopathy syndrome","Name":"Cleft lip-retinopathy syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931789","Source__c":"C2931789","Xref__c":"C2931789"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538272","Source__c":"MONDO:0016051","Xref__c":"C538272"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419494","Source__c":"C2931789","Xref__c":"MEDGEN:419494"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016051","Source__c":"GARD:0000435","Xref__c":"MONDO:0016051"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=732247000","Source__c":"C2931789","Xref__c":"732247000"}],"tags":{},"synonyms":["ausems wittebol post hennekam syndrome"," ausems-wittebol post-hennekam syndrome"," cleft lip retinopathy syndrome"," cleft lip-cone rod dystrophy syndrome"," cleft lip-progressive retinopathy syndrome"]}