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General Information
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| Term |
primary ciliary dyskinesia 36 |
ID (Ontology) |
DOID:0111850 (Human Disease) |
| Definition |
A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. |
| Also Known As |
"CILD36" ; "X-linked primary ciliary dyskinesia 36" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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primary ciliary dyskinesia 36 | 1 | for disease ribbon | primary ciliary dyskinesia 36 | 1 | model of | primary ciliary dyskinesia 36 | 1 |
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Relationships