Primary Ciliary Dyskinesia 40
Disease ID: disease_node_14678
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| Dbxref | MIM:618300 |
|---|---|
| Subclassof | DOID_0050737, DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD40, primary ciliary dyskinesia 40 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 40 |
| Doid Description | A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14678 |
| Doid Id | DOID_0111853 |
| Label | Primary Ciliary Dyskinesia 40 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)