{"Name":"Glaucoma-sleep apnea syndrome","DiseaseID__c":"GARD:0002483","id":2483,"encodedName":"glaucoma-sleep-apnea-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Glaucoma-sleep apnea syndrome","Xref_IDs__c":"C1842025; C564232; MEDGEN:330749; MONDO:0007666; OMIM:137763; ORPHA:2085","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007666","Disease_Description__c":"Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).","GARD_Name__c":"Glaucoma-sleep apnea syndrome","GARD_Synonym__c":"glaucoma and sleep apnea","Curated_Disease_Description_Source__c":"MONDO:0007666","Curated_Disease_Description__c":"Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2085","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007666","ORPHANET_ID__c":"ORPHA:2085","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de glaucoma-apnea del sueño","Spanish_Description_Source__c":"ORPHA:2085","Spanish_Description__c":"Es un síndrome caracterizado por apnea del sueño asociada a glaucoma. Se ha descrito en cinco miembros de una familia (la madre y cuatro de sus hijos).","Spanish_Disease_Name__c":"síndrome de glaucoma-apnea del sueño","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97966","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":"Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).","Curated_Disease_Description_Source__c":"MONDO:0007666","GARD_Synonym__c":"glaucoma and sleep apnea","Name":"Glaucoma-sleep apnea syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Project Sleep","Website__c":"https://project-sleep.com/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Glaucoma","Tag_Category__c":"Account","curated_tag_name":"Glaucoma"},{"Tag_Name__c":"Sleep medicine","Tag_Category__c":"Specialist","curated_tag_name":"Sleep medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:2085"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/137763","Source__c":"C1842025; MONDO:0007666; ORPHA:2085","Xref__c":"OMIM:137763"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842025","Source__c":"C1842025","Xref__c":"C1842025"},{"URL__c":"https://www.orpha.net/en/disease/detail/2085","Source__c":"C1842025; MONDO:0007666","Xref__c":"ORPHA:2085"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564232","Source__c":"MONDO:0007666","Xref__c":"C564232"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330749","Source__c":"C1842025","Xref__c":"MEDGEN:330749"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007666","Source__c":"GARD:0002483","Xref__c":"MONDO:0007666"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2085","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2085","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2085","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010535","HPO_Synonym__c":"Pauses in breathing while sleeping; Sleep apnea; Sleep apnoea","HPO_Name__c":"Sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Sleep medicine"],"Account":["Glaucoma"]},"synonyms":["glaucoma and sleep apnea"]}