{"Name":"Dacryocystitis-osteopoikilosis syndrome","DiseaseID__c":"GARD:0000351","id":351,"encodedName":"dacryocystitis-osteopoikilosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Dacryocystitis-osteopoikilosis syndrome","Xref_IDs__c":"721082002; C1833698; C536061; MEDGEN:318939; MONDO:0008158; OMIM:166705","USA_Estimate__c":"1,000","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":"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008158","Disease_Description__c":"Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).","GARD_Name__c":"Dacryocystitis-osteopoikilosis syndrome","GARD_Synonym__c":"dacryocystitis and osteopoikilosis syndrome; gunal seber basaran syndrome; gunal-seber-basaran syndrome","Curated_Disease_Description_Source__c":"MONDO:0008158","Curated_Disease_Description__c":"Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1562","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008158","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__c":"Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter).","Curated_Disease_Description_Source__c":"MONDO:0008158","GARD_Synonym__c":"dacryocystitis and osteopoikilosis syndrome; gunal seber basaran syndrome; gunal-seber-basaran syndrome","Name":"Dacryocystitis-osteopoikilosis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318939","Source__c":"C1833698","Xref__c":"MEDGEN:318939"},{"URL__c":"https://www.omim.org/entry/166705","Source__c":"C1833698; MONDO:0008158","Xref__c":"OMIM:166705"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833698","Source__c":"C1833698","Xref__c":"C1833698"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721082002","Source__c":"C1833698; MONDO:0008158","Xref__c":"721082002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536061","Source__c":"MONDO:0008158","Xref__c":"C536061"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008158","Source__c":"GARD:0000351","Xref__c":"MONDO:0008158"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:166705","Feature__r":{"HPO_Description__c":"Inflammation of the nasolacrimal sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000620","HPO_Synonym__c":"Dacrocystitis; Infection of the lacrimal sac","HPO_Name__c":"Dacryocystitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:166705","Feature__r":{"HPO_Description__c":"Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010739","HPO_Name__c":"Osteopoikilosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["dacryocystitis and osteopoikilosis syndrome"," gunal seber basaran syndrome"," gunal-seber-basaran syndrome"]}