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familial nasal acilia

Disease Summary
Associated Targets (0)

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Mondo Description Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions.
Mondo Term and Equivalent IDs
MONDO:0019634:  familial nasal acilia
GARD:0002254: 
Orphanet:922: 
SCTID:763532008: 
UMLS:CN206502: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found