Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
primary ciliary dyskinesia 39
Summary
- Synonym
-
- CILD39
- primary ciliary dyskinesia 39 with or without situs inversus
- Definition
- A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
- Super Class
- autosomal recessive disease primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0111854
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0002110 | Bronchiectasis |
| HP:0011947 | Respiratory tract infection |
| HP:0100750 | Atelectasis |
| HP:0011539 | Atrial situs ambiguous |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0011535 | Abnormal atrial arrangement |
| HP:0012206 | Abnormal sperm motility |
| HP:0100582 | Nasal polyposis |
| HP:0011617 | Pulmonary situs ambiguus |
