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General Information
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| Term |
primary ciliary dyskinesia 18 |
ID (Ontology) |
DOID:0110604 (Human Disease) |
| Definition |
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. |
| Also Known As |
"CILD18" ; "primary ciliary dyskinesia 18 with or without situs inversus" |
| 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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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | Human Disease Models (FBhh) | DOID | 1 |
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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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| Alleles | Genes | Human Disease Models |
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primary ciliary dyskinesia 18 | 1 | 1 | 1 | for disease ribbon | primary ciliary dyskinesia 18 | -- | 1 | -- | model of | primary ciliary dyskinesia 18 | 1 | 1 | -- |
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Relationships