Primary Ciliary Dyskinesia 43
Disease ID: disease_node_14675
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| Dbxref | MIM:618699 |
|---|---|
| Subclassof | DOID_0050736, DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD43, primary ciliary dyskinesia 43 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 43 |
| Doid Description | A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_14675 |
| Doid Id | DOID_0111856 |
| Label | Primary Ciliary Dyskinesia 43 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)