Primary Ciliary Dyskinesia 38
Disease ID: disease_node_14679
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618063 |
|---|---|
| Subclassof | DOID_0050737, DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD38, primary ciliary dyskinesia 38 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 38 |
| Doid Description | A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14679 |
| Doid Id | DOID_0111852 |
| Label | Primary Ciliary Dyskinesia 38 |
- 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)