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 21
Summary
- Synonym
-
- CILD21
- primary ciliary dyskinesia 21 without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110596
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96MC2 | Dynein regulatory complex protein 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3USS3 | Dynein regulatory complex protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0002110 | Bronchiectasis |
| HP:0001627 | Abnormal heart morphology |
| HP:0011109 | Chronic sinusitis |
| HP:0100582 | Nasal polyposis |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0011617 | Pulmonary situs ambiguus |
| HP:0003251 | Male infertility |
| HP:0011535 | Abnormal atrial arrangement |
| HP:0012206 | Abnormal sperm motility |
