Primary Ciliary Dyskinesia 13
Disease ID: disease_node_14648
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| Dbxref | ICD10CM:Q34.8, MIM:613193 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD13, primary ciliary dyskinesia 13 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 13 |
| Doid Description | A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. |
| Disease Node Id | disease_node_14648 |
| Doid Id | DOID_0110618 |
| Label | Primary Ciliary Dyskinesia 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)