{"Name":"Autosomal recessive nonsyndromic hearing loss 51","DiseaseID__c":"GARD:0009918","id":9918,"encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-51","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive nonsyndromic hearing loss 51","Xref_IDs__c":"C1864968; C538202; DOID:0110508; MEDGEN:355880; MONDO:0012370; OMIM:609941","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012370","Disease_Description__c":"An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.","GARD_Name__c":"Autosomal recessive nonsyndromic hearing loss 51","GARD_Synonym__c":"autosomal recessive nonsyndromic deafness 51; deafness, autosomal recessive 51","Curated_Disease_Description_Source__c":"MONDO:0012370","Curated_Disease_Description__c":"An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:609941","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012370","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":"An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.","Curated_Disease_Description_Source__c":"MONDO:0012370","GARD_Synonym__c":"autosomal recessive nonsyndromic deafness 51; deafness, autosomal recessive 51","Name":"Autosomal recessive nonsyndromic hearing loss 51","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009918","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864968","Source__c":"C1864968","Xref__c":"C1864968"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355880","Source__c":"C1864968","Xref__c":"MEDGEN:355880"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538202","Source__c":"MONDO:0012370","Xref__c":"C538202"},{"URL__c":"https://www.omim.org/entry/609941","Source__c":"C1864968; MONDO:0012370","Xref__c":"OMIM:609941"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110508","Source__c":"MONDO:0012370","Xref__c":"DOID:0110508"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012370","Source__c":"GARD:0009918","Xref__c":"MONDO:0012370"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609941","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["autosomal recessive nonsyndromic deafness 51"," deafness, autosomal recessive 51"]}