| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000389 | Chronic otitis media | |
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| HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| HP:0002110 | Bronchiectasis | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002257 | Chronic rhinitis | |
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| HP:0003577 | Onset at birth | |
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| HP:0011109 | Chronic sinusitis | "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| HP:0012256 | Absent outer dynein arms | "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] |
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| HP:0012262 | Abnormal ciliary motility | "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [HPO:probinson, pmid:19606528, pmid:20301301] |
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| HP:0012265 | Ciliary dyskinesia | "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:probinson, pmid:19606528] |
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