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 30
Summary
- Synonym
-
- CILD30
- primary ciliary dyskinesia 30 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110624
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
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 |
