Search Ontology:
Human Disease
primary ciliary dyskinesia 5
- Term ID
- DOID:0110617
- Synonyms
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- CILD5
- primary ciliary dyskinesia 5 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. https://www.ncbi.nlm.nih.gov/pubmed/23022101
- References
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- ICD10CM:Q34.8
- MIM:608647
- Ontology
- Human Disease ( DOID:0110617 )
- is a type of
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Genes Involved
Zebrafish Models