{"Name":"Ciliary dyskinesia with transposition of ciliary microtubules","DiseaseID__c":"GARD:0001361","id":1361,"encodedName":"ciliary-dyskinesia-with-transposition-of-ciliary-microtubules","IsDeleted":false,"Disease_Name_Full__c":"Ciliary dyskinesia with transposition of ciliary microtubules","Xref_IDs__c":"C2673817; C567137; MEDGEN:388736; MONDO:0008985; OMIM:215520","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:215520","Disease_Description__c":null,"GARD_Name__c":"Ciliary dyskinesia with transposition of ciliary microtubules","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"OMIM:215520","Curated_Disease_Description__c":"Ciliary dyskinesia with transposition of ciliary microtubules can cause chronic sinopulmonary disease and transposition of the number 1 doublet microtubule. This condition can cause anatomic differences in the nasal and bronchial cilia of males and females and the sperm of males. Since some motility of cilia may be retained (as is true in dynein-defective cilia), this type of ciliary dyskinesia is distinct from 'immotile cilia syndrome.'","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:215520","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008985","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 transposition of ciliary microtubules can cause chronic sinopulmonary disease and transposition of the number 1 doublet microtubule. This condition can cause anatomic differences in the nasal and bronchial cilia of males and females and the sperm of males. Since some motility of cilia may be retained (as is true in dynein-defective cilia), this type of ciliary dyskinesia is distinct from 'immotile cilia syndrome.'","Curated_Disease_Description_Source__c":"OMIM:215520","Name":"Ciliary dyskinesia with transposition of ciliary microtubules","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567137","Source__c":"MONDO:0008985","Xref__c":"C567137"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=388736","Source__c":"C2673817","Xref__c":"MEDGEN:388736"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673817","Source__c":"C2673817","Xref__c":"C2673817"},{"URL__c":"https://www.omim.org/entry/215520","Source__c":"C2673817; MONDO:0008985","Xref__c":"OMIM:215520"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008985","Source__c":"GARD:0001361","Xref__c":"MONDO:0008985"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:215520","Feature__r":{"HPO_Description__c":"Abnormal arrangement of the structures of the motile cilium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005938","HPO_Name__c":"Abnormal respiratory motile cilium morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:215520","Feature__r":{"HPO_Description__c":"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005425","HPO_Synonym__c":"Chronic sinopulmonary infection; Recurrent sinus and lung infections","HPO_Name__c":"Recurrent sinopulmonary infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:215520","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"}}],"tags":{},"synonyms":[""]}