{"Name":"Immotile cilia syndrome due to excessively long cilia","DiseaseID__c":"GARD:0002982","id":2982,"encodedName":"immotile-cilia-syndrome-due-to-excessively-long-cilia","IsDeleted":false,"Disease_Name_Full__c":"Immotile cilia syndrome due to excessively long cilia","Xref_IDs__c":"233665006; C0340036; C536287; MEDGEN:90947; MONDO:0009450; OMIM:242680","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:242680","Disease_Description__c":null,"GARD_Name__c":"Immotile cilia syndrome due to excessively long cilia","GARD_Synonym__c":"ciliary dyskinesia with excessively long cilia","Curated_Disease_Description_Source__c":"OMIM:242680","Curated_Disease_Description__c":"Ciliary dyskinesia with excessively long cilia is an autosomal recessive disorder that clinically resembles immotile cilia syndrome. Symptoms include chronic rhinitis, sinusitis, bronchitis, severely decreased mucociliary clearance of the lungs, and nasal polyps. The nasal cilia in people with this disorder is about twice the normal length but normal in cross-sectional dimension (diameter).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:242680","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009450","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":"Ciliary dyskinesia with excessively long cilia is an autosomal recessive disorder that clinically resembles immotile cilia syndrome. Symptoms include chronic rhinitis, sinusitis, bronchitis, severely decreased mucociliary clearance of the lungs, and nasal polyps. The nasal cilia in people with this disorder is about twice the normal length but normal in cross-sectional dimension (diameter).","Curated_Disease_Description_Source__c":"OMIM:242680","GARD_Synonym__c":"ciliary dyskinesia with excessively long cilia","Name":"Immotile cilia syndrome due to excessively long cilia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Primary Ciliary Dyskinesia (PCD) Foundation","Website__c":"https://pcdfoundation.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/242680","Source__c":"C0340036; MONDO:0009450","Xref__c":"OMIM:242680"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536287","Source__c":"MONDO:0009450","Xref__c":"C536287"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340036","Source__c":"C0340036","Xref__c":"C0340036"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233665006","Source__c":"C0340036; MONDO:0009450","Xref__c":"233665006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90947","Source__c":"C0340036","Xref__c":"MEDGEN:90947"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009450","Source__c":"GARD:0002982","Xref__c":"MONDO:0009450"}],"tags":{},"synonyms":["ciliary dyskinesia with excessively long cilia"]}