{"Name":"Deafness-oligodontia syndrome","DiseaseID__c":"GARD:0001698","id":1698,"encodedName":"deafness-oligodontia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Deafness-oligodontia syndrome","Xref_IDs__c":"C1857333; C538049; MEDGEN:387798; MONDO:0009089; OMIM:221740; ORPHA:3230","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009089","Disease_Description__c":"Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.","GARD_Name__c":"Deafness-oligodontia syndrome","GARD_Synonym__c":"autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia; congenital profound sensorineural deafness and oligodontia; deafness and oligodontia syndrome; hearing loss-oligodontia syndrome","Curated_Disease_Description_Source__c":"MONDO:0009089","Curated_Disease_Description__c":"Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.","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:3230","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009089","ORPHANET_ID__c":"ORPHA:3230","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sordera-oligodoncia","Spanish_Description_Source__c":"ORPHA:3230","Spanish_Description__c":"Es un síndrome caracterizado por hipoacusia neurosensorial y oligodoncia o hipodoncia. Se ha descrito en dos parejas de hermanos y en un caso aislado. En una de las parejas de hermanos se registró la presencia de vértigo. La transmisión parece ser autosómica recesiva.","Spanish_Disease_Name__c":"síndrome de sordera-oligodoncia","Spanish_GARD_Synonym__c":"síndrome de hipoacusia-oligodoncia","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":"Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009089","GARD_Synonym__c":"autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia; congenital profound sensorineural deafness and oligodontia; deafness and oligodontia syndrome; hearing loss-oligodontia syndrome","Name":"Deafness-oligodontia syndrome","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":"Odontology","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:3230"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3230"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857333","Source__c":"C1857333","Xref__c":"C1857333"},{"URL__c":"https://www.orpha.net/en/disease/detail/3230","Source__c":"C1857333; MONDO:0009089; ORPHA:3230","Xref__c":"ORPHA:3230"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=387798","Source__c":"C1857333","Xref__c":"MEDGEN:387798"},{"URL__c":"https://www.omim.org/entry/221740","Source__c":"C1857333; MONDO:0009089; ORPHA:3230","Xref__c":"OMIM:221740"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538049","Source__c":"MONDO:0009089","Xref__c":"C538049"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715527006","Source__c":"C1857333","Xref__c":"715527006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009089","Source__c":"GARD:0001698","Xref__c":"MONDO:0009089"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absence of six or more teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000677","HPO_Synonym__c":"Failure of development of more than six teeth; Partial anodontia","HPO_Name__c":"Oligodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3230","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:3230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000359","HPO_Synonym__c":"Abnormality of the inner ear; Inner ear abnormality","HPO_Name__c":"Abnormality of the inner ear","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Otolaryngology","Odontology","Pediatrics"]},"synonyms":["autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia"," congenital profound sensorineural deafness and oligodontia"," deafness and oligodontia syndrome"," hearing loss-oligodontia syndrome"]}