| 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:0000246 | Sinusitis | |
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| HP:0000389 | Chronic otitis media | |
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| HP:0000405 | Hearing loss, conductive | |
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| HP:0000458 | Anosmia | "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:curators] |
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| HP:0000481 | Abnormality of the cornea | "Any abnormality of the `cornea` (FMA:58238), which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:curators] |
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| HP:0001334 | Communicating hydrocephalus | |
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| HP:0001425 | Heterogeneous | |
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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:0001746 | Asplenia | "Absence (aplasia) of the spleen." [HPO:curators] |
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| HP:0002090 | Pneumonia | |
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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:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002688 | Absent frontal sinuses | |
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| HP:0003251 | Male infertility | |
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| HP:0005938 | Ciliary dysgenesis | |
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| HP:0011109 | Chronic sinusitis | "A chronic form of `sinusitis` (HP:0000246)." [HPO:probinson] |
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| HP:0012263 | Immotile cilia | |
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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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| HP:0100582 | Nasal polyposis | "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:sdoelken] |
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