Search Ontology:
Human Disease
primary ciliary dyskinesia 24
- Term ID
- DOID:0110628
- Synonyms
-
- CILD24
- primary ciliary dyskinesia 24 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/23993197
- References
-
- ICD10CM:Q34.8
- OMIM:615481
- Ontology
- Human Disease ( DOID:0110628 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models
Citations