Primary Ciliary Dyskinesia 45
Disease ID: disease_node_14674
Connections displayed (default: 10).
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| Dbxref | MIM:618801 |
|---|---|
| Subclassof | DOID_0050737, DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD45, primary ciliary dyskinesia 45 without situs inversus |
| Doid Label | primary ciliary dyskinesia 45 |
| Doid Description | A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14674 |
| Doid Id | DOID_0111857 |
| Label | Primary Ciliary Dyskinesia 45 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)