{"Name":"Anotia","DiseaseID__c":"GARD:0016835","id":16835,"encodedName":"anotia","IsDeleted":false,"Disease_Name_Full__c":"Anotia","Xref_IDs__c":"57436000; C0702139; HP:0009892; MEDGEN:152377; MONDO:0019780; ORPHA:93976","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019780","Disease_Description__c":"A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.","GARD_Name__c":"Anotia","GARD_Synonym__c":"absent ear; absent ears; agenesis of external ear; congenital absence of auricle; congenital absence of ear auricle; congenital absence of external ear; congenital absence of pinna","Curated_Disease_Description_Source__c":"MONDO:0019780","Curated_Disease_Description__c":"A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93976","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019780","ORPHANET_ID__c":"ORPHA:93976","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anotia","Spanish_Description_Source__c":"ORPHA:93976","Spanish_Description__c":"Es una malformación congénita del oído externo y la forma más extrema de microtia caracterizada por la ausencia completa del oído externo y del conducto auditivo, pérdida de audición conductiva, trastornos de déficit de atención y retraso en el desarrollo del lenguaje.","Spanish_Disease_Name__c":"anotia","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.","Curated_Disease_Description_Source__c":"MONDO:0019780","GARD_Synonym__c":"absent ear; absent ears; agenesis of external ear; congenital absence of auricle; congenital absence of ear auricle; congenital absence of external ear; congenital absence of pinna","Name":"Anotia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93976"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93976"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/93976","Source__c":"C0702139; MONDO:0019780; ORPHA:93976","Xref__c":"ORPHA:93976"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=152377","Source__c":"C0702139","Xref__c":"MEDGEN:152377"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=57436000","Source__c":"C0702139; MONDO:0019780","Xref__c":"57436000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0702139","Source__c":"C0702139","Xref__c":"C0702139"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009892","Source__c":"C0702139","Xref__c":"HP:0009892"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019780","Source__c":"GARD:0016835","Xref__c":"MONDO:0019780"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1366391008","Source__c":"C0702139","Xref__c":"1366391008"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Pediatrics"]},"synonyms":["absent ear"," absent ears"," agenesis of external ear"," congenital absence of auricle"," congenital absence of ear auricle"," congenital absence of external ear"," congenital absence of pinna"]}