{"Name":"Autosomal recessive nonsyndromic hearing loss 55","DiseaseID__c":"GARD:0009919","id":9919,"encodedName":"autosomal-recessive-nonsyndromic-hearing-loss-55","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive nonsyndromic hearing loss 55","Xref_IDs__c":"C1864962; C538203; DOID:0110510; MEDGEN:355338; MONDO:0012376; OMIM:609952","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:0012376","Disease_Description__c":"An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.","GARD_Name__c":"Autosomal recessive nonsyndromic hearing loss 55","GARD_Synonym__c":"autosomal recessive nonsyndromic deafness 55; deafness, autosomal recessive 55","Curated_Disease_Description_Source__c":"MONDO:0012376","Curated_Disease_Description__c":"An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:609952","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012376","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 4q12-q13.2.","Curated_Disease_Description_Source__c":"MONDO:0012376","GARD_Synonym__c":"autosomal recessive nonsyndromic deafness 55; deafness, autosomal recessive 55","Name":"Autosomal recessive nonsyndromic hearing loss 55","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009919","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110510","Source__c":"MONDO:0012376","Xref__c":"DOID:0110510"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538203","Source__c":"MONDO:0012376","Xref__c":"C538203"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864962","Source__c":"C1864962","Xref__c":"C1864962"},{"URL__c":"https://www.omim.org/entry/609952","Source__c":"C1864962; MONDO:0012376","Xref__c":"OMIM:609952"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355338","Source__c":"C1864962","Xref__c":"MEDGEN:355338"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012376","Source__c":"GARD:0009919","Xref__c":"MONDO:0012376"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609952","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 55"," deafness, autosomal recessive 55"]}