{"Name":"Immotile cilia syndrome due to defective radial spokes","DiseaseID__c":"GARD:0002981","id":2981,"encodedName":"immotile-cilia-syndrome-due-to-defective-radial-spokes","IsDeleted":false,"Disease_Name_Full__c":"Immotile cilia syndrome due to defective radial spokes","Xref_IDs__c":"233664005; C0340035; C536286; MEDGEN:137933; MONDO:0009449; OMIM:242670","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:242670","Disease_Description__c":null,"GARD_Name__c":"Immotile cilia syndrome due to defective radial spokes","GARD_Synonym__c":"cilia with defective radial spokes; ciliary dyskinesia with defective radial spokes","Curated_Disease_Description_Source__c":"OMIM:242670","Curated_Disease_Description__c":"Ciliary dyskinesia with defective radial spokes is a chronic respiratory disease characterized by lack of radial spokes in the cilia of the respiratory tract. The cilia are immotile and mucociliary clearance is completely lacking. This condition can also cause dysfunction in sperm due to morphologic changes in the cilia causing them to be immotile.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:242670","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009449","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 defective radial spokes is a chronic respiratory disease characterized by lack of radial spokes in the cilia of the respiratory tract. The cilia are immotile and mucociliary clearance is completely lacking. This condition can also cause dysfunction in sperm due to morphologic changes in the cilia causing them to be immotile.","Curated_Disease_Description_Source__c":"OMIM:242670","GARD_Synonym__c":"cilia with defective radial spokes; ciliary dyskinesia with defective radial spokes","Name":"Immotile cilia syndrome due to defective radial spokes","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.ncbi.nlm.nih.gov/mesh/C536286","Source__c":"MONDO:0009449","Xref__c":"C536286"},{"URL__c":"https://www.omim.org/entry/242670","Source__c":"C0340035; MONDO:0009449","Xref__c":"OMIM:242670"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340035","Source__c":"C0340035","Xref__c":"C0340035"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137933","Source__c":"C0340035","Xref__c":"MEDGEN:137933"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233664005","Source__c":"C0340035; MONDO:0009449","Xref__c":"233664005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009449","Source__c":"GARD:0002981","Xref__c":"MONDO:0009449"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:242670","Feature__r":{"HPO_Description__c":"Chronic inflammation of the nasal mucosa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002257","HPO_Name__c":"Chronic rhinitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:242670","Feature__r":{"HPO_Description__c":"Abnormal function of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002795","HPO_Synonym__c":"Abnormal respiration; Functional respiratory abnormality","HPO_Name__c":"Abnormal respiratory system physiology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:242670","Feature__r":{"HPO_Description__c":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000246","HPO_Synonym__c":"Sinus inflammation","HPO_Name__c":"Sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:242670","Feature__r":{"HPO_Description__c":"A lack of mobility of ejaculated sperm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012208","HPO_Synonym__c":"Nonmotile sperm","HPO_Name__c":"Immotile sperm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:242670","Feature__r":{"HPO_Description__c":"A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012265","HPO_Synonym__c":"Lack of coordinated beating of respiratory cilia","HPO_Name__c":"Ciliary dyskinesia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:242670","Feature__r":{"HPO_Description__c":"Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100582","HPO_Synonym__c":"Nasal polyps; Polyposis nasi; Polyps of nose","HPO_Name__c":"Nasal polyposis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:242670","Feature__r":{"HPO_Description__c":"Absence of the radial spokes of the axoneme of the respiratory cilium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012267","HPO_Name__c":"Absent respiratory ciliary axoneme radial spokes","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:242670","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012263","HPO_Name__c":"Immotile cilia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["cilia with defective radial spokes"," ciliary dyskinesia with defective radial spokes"]}