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 / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
primary ciliary dyskinesia 10
Summary
- Synonym
-
- CILD10
- primary ciliary dyskinesia 10 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110612
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NVR5 | Protein kintoun |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8BPI1 | Protein kintoun |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0002643 | Neonatal respiratory distress |
| HP:0011535 | Abnormal atrial arrangement |
| HP:0003251 | Male infertility |
| HP:0012206 | Abnormal sperm motility |
| HP:0008222 | Female infertility |
| HP:0100582 | Nasal polyposis |
| HP:0011109 | Chronic sinusitis |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0011617 | Pulmonary situs ambiguus |
