Primary Ciliary Dyskinesia 36
Disease ID: disease_node_14681
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| Dbxref | MIM:300991 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD36, X-linked primary ciliary dyskinesia 36 |
| Doid Label | primary ciliary dyskinesia 36 |
| Doid Description | A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. |
| Disease Node Id | disease_node_14681 |
| Doid Id | DOID_0111850 |
| Label | Primary Ciliary Dyskinesia 36 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)