{"Name":"High myopia-sensorineural deafness syndrome","DiseaseID__c":"GARD:0012844","id":12844,"encodedName":"high-myopia-sensorineural-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"High myopia-sensorineural deafness syndrome","Xref_IDs__c":"720506002; C3806275; DOID:0111628; MEDGEN:812605; MONDO:0009082; OMIM:221200; ORPHA:363396","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009082","Disease_Description__c":"High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.","GARD_Name__c":"High myopia-sensorineural deafness syndrome","GARD_Synonym__c":"deafness and myopia; deafness and myopia syndrome; high myopia and sensorineural deafness; high myopia-sensorineural hearing loss syndrome","Curated_Disease_Description_Source__c":"GARD:0012844","Curated_Disease_Description__c":"Deafness and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual). Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.","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:363396","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009082","ORPHANET_ID__c":"ORPHA:363396","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de miopía alta-sordera neurosensorial","Spanish_Description_Source__c":"ORPHA:363396","Spanish_Description__c":"El síndrome de miopía alta - sordera neurosensorial es una enfermedad genética poco frecuente caracterizada por una miopía de alto grado, que suele oscilar entre -6,0 y -11,0 dioptrías, y una pérdida auditiva prelocutiva neurosensorial progresiva bilateral de moderada a profunda. Los individuos afectados no presentan otras manifestaciones sistémicas, oculares o del tejido conjuntivo.","Spanish_Disease_Name__c":"síndrome de miopía alta-sordera neurosensorial","Spanish_GARD_Synonym__c":"síndrome de miopía alta-hipoacusia neurosensorial","Category_Linearization__c":"ORPHA:98036","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 and myopia syndrome is a disorder that causes problems with both hearing and vision. People with this disorder have moderate to profound hearing loss in both ears that may worsen over time. The hearing loss may be described as sensorineural, meaning that it is related to changes in the inner ear, or it may be caused by auditory neuropathy, which is a problem with the transmission of sound (auditory) signals from the inner ear to the brain. The hearing loss is either present at birth (congenital) or begins in infancy, before the child learns to speak (prelingual). Affected individuals also have severe nearsightedness (high myopia). These individuals are able to see nearby objects clearly, but objects that are farther away appear blurry. The myopia is usually diagnosed by early childhood.","Curated_Disease_Description_Source__c":"GARD:0012844","GARD_Synonym__c":"deafness and myopia; deafness and myopia syndrome; high myopia and sensorineural deafness; high myopia-sensorineural hearing loss syndrome","Name":"High myopia-sensorineural deafness 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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Neonatal","Provided_By__c":"ORPHA:363396"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:363396"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012844","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK269029","Xref__c":"NBK269029"},{"URL__c":"https://www.omim.org/entry/221200","Source__c":"C3806275; MONDO:0009082; ORPHA:363396","Xref__c":"OMIM:221200"},{"URL__c":"https://www.orpha.net/en/disease/detail/363396","Source__c":"C3806275; MONDO:0009082","Xref__c":"ORPHA:363396"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3806275","Source__c":"C3806275","Xref__c":"C3806275"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111628","Source__c":"MONDO:0009082","Xref__c":"DOID:0111628"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720506002","Source__c":"C3806275; MONDO:0009082","Xref__c":"720506002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=812605","Source__c":"C3806275","Xref__c":"MEDGEN:812605"},{"URL__c":"https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome","Source__c":"GARD:0012844","Xref__c":"https://medlineplus.gov/genetics/condition/deafness-and-myopia-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009082","Source__c":"GARD:0012844","Xref__c":"MONDO:0009082"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLITRK6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slitrk6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:221200","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":"OMIM:221200","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe form of myopia with greater than -6.00 diopters.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011003","HPO_Synonym__c":"Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted","HPO_Name__c":"High myopia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Otolaryngology","Pediatrics"]},"synonyms":["deafness and myopia"," deafness and myopia syndrome"," high myopia and sensorineural deafness"," high myopia-sensorineural hearing loss syndrome"]}