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primary ciliary dyskinesia 1
Summary
- Synonym
-
- CILD1
- primary ciliary dyskinesia 1 with or without situs inversus
- Definition
- A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
- Super Class
- primary ciliary dyskinesia
External Links
- Disease Ontology
- DOID:0110594
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1056 | CEL | carboxyl ester lipase | |
| 1109 | AKR1C4 | aldo-keto reductase family 1 member C4 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 6382 | SDC1 | syndecan 1 | |
| 10998 | SLC27A5 | solute carrier family 27 member 5 | |
| 50863 | NTM | neurotrimin | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E |
Related Glycoprotein
