Primary Ciliary Dyskinesia 42
Disease ID: disease_node_14676
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| Dbxref | MIM:618695 |
|---|---|
| Subclassof | DOID_0050737, DOID_9562 |
| Data Source | DOID |
| Synonyms | CILD42, primary ciliary dyskinesia 42 without situs inversus |
| Doid Label | primary ciliary dyskinesia 42 |
| Doid Description | A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14676 |
| Doid Id | DOID_0111855 |
| Label | Primary Ciliary Dyskinesia 42 |
- 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)