{"Name":"Autosomal recessive nonsyndromic hearing loss 47","DiseaseID__c":"GARD:0009935","id":9935,"encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-47","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive nonsyndromic hearing loss 47","Xref_IDs__c":"C1864964; C566498; DOID:0110504; MEDGEN:355339; MONDO:0012375; OMIM:609946","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012375","Disease_Description__c":"An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.","GARD_Name__c":"Autosomal recessive nonsyndromic hearing loss 47","GARD_Synonym__c":"autosomal recessive nonsyndromic deafness 47; deafness, autosomal recessive 47; deafness, neurosensory, autosomal recessive 47","Curated_Disease_Description_Source__c":"MONDO:0012375","Curated_Disease_Description__c":"An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:609946","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012375","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 2p25.1-p24.3.","Curated_Disease_Description_Source__c":"MONDO:0012375","GARD_Synonym__c":"autosomal recessive nonsyndromic deafness 47; deafness, autosomal recessive 47; deafness, neurosensory, autosomal recessive 47","Name":"Autosomal recessive nonsyndromic hearing loss 47","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hearing Loss Association of America","Website__c":"https://www.hearingloss.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009935","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864964","Source__c":"C1864964","Xref__c":"C1864964"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566498","Source__c":"MONDO:0012375","Xref__c":"C566498"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355339","Source__c":"C1864964","Xref__c":"MEDGEN:355339"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110504","Source__c":"MONDO:0012375","Xref__c":"DOID:0110504"},{"URL__c":"https://www.omim.org/entry/609946","Source__c":"C1864964; MONDO:0012375","Xref__c":"OMIM:609946"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012375","Source__c":"GARD:0009935","Xref__c":"MONDO:0012375"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609946","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["autosomal recessive nonsyndromic deafness 47"," deafness, autosomal recessive 47"," deafness, neurosensory, autosomal recessive 47"]}