Primary Ciliary Dyskinesia 34
Disease ID: disease_node_14656
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| Dbxref | MIM:617091 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD34, primary ciliary dyskinesia 34 without situs inversus |
| Doid Label | primary ciliary dyskinesia 34 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. |
| Disease Node Id | disease_node_14656 |
| Doid Id | DOID_0110610 |
| Label | Primary Ciliary Dyskinesia 34 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)