{"Name":"Renal-genital-middle ear anomalies","DiseaseID__c":"GARD:0004664","id":4664,"encodedName":"renal-genital-middle-ear-anomalies","IsDeleted":false,"Disease_Name_Full__c":"Renal-genital-middle ear anomalies","Xref_IDs__c":"C1849432; C564849; MEDGEN:341454; MONDO:0009969; OMIM:267400","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":0,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MEDGEN:C1832817","Disease_Description__c":null,"GARD_Name__c":"Renal-genital-middle ear anomalies","GARD_Synonym__c":"renal, genital, and middle ear anomalies","Curated_Disease_Description_Source__c":"MEDGEN:C1832817","Curated_Disease_Description__c":null,"Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009969","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_Source__c":"MEDGEN:C1832817","GARD_Synonym__c":"renal, genital, and middle ear anomalies","Name":"Renal-genital-middle ear anomalies","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341454","Source__c":"C1849432","Xref__c":"MEDGEN:341454"},{"URL__c":"https://www.omim.org/entry/267400","Source__c":"C1849432; MONDO:0009969","Xref__c":"OMIM:267400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849432","Source__c":"C1849432","Xref__c":"C1849432"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564849","Source__c":"MONDO:0009969","Xref__c":"C564849"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009969","Source__c":"GARD:0004664","Xref__c":"MONDO:0009969"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:267400","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"}},{"Provided_By__c":"OMIM:267400","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008678","HPO_Synonym__c":"Absent/small kidney; Absent/underdeveloped kidney; Renal agenesis/hypoplasia; Renal aplasia/hypoplasia","HPO_Name__c":"Renal hypoplasia/aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267400","Feature__r":{"HPO_Description__c":"An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004452","HPO_Synonym__c":"Malformed ossicles; Ossicular malformation","HPO_Name__c":"Abnormality of the middle ear ossicles","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:267400","Feature__r":{"HPO_Description__c":"Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000148","HPO_Synonym__c":"Abnormally closed or absent vagina","HPO_Name__c":"Vaginal atresia","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["renal, genital, and middle ear anomalies"]}