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 7
Summary
- Synonym
-
- CILD7
- primary ciliary dyskinesia 7 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21.
- Super Class
- primary ciliary dyskinesia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96DT5 | Dynein axonemal heavy chain 11 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| E9Q7N9 | Dynein, axonemal, heavy chain 11 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000405 | Conductive hearing impairment |
| HP:0001627 | Abnormal heart morphology |
| HP:0002119 | Ventriculomegaly |
| HP:0000403 | Recurrent otitis media |
| HP:0001742 | Nasal congestion |
| HP:0001746 | Asplenia |
| HP:0002110 | Bronchiectasis |
| HP:0000238 | Hydrocephalus |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0001217 | Clubbing |
