Primary Ciliary Dyskinesia 1
Disease ID: disease_node_14671
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| Dbxref | ICD10CM:Q34.8, MIM:244400 |
|---|---|
| Subclassof | DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD1, primary ciliary dyskinesia 1 with or without situs inversus |
| Doid Label | primary ciliary dyskinesia 1 |
| Doid Description | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. |
| Disease Node Id | disease_node_14671 |
| Doid Id | DOID_0110594 |
| Label | Primary Ciliary Dyskinesia 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Ciliary Motility Disorders(ID:disease_node_2113) (Disease)