Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: primary ciliary dyskinesia type 19 ciliary dyskinesia, primary, type 19 primary ciliary dyskinesia caused by mutation in LRRC6 primary ciliary dyskinesia 19 LRRC6 primary ciliary dyskinesia CILD19 primary ciliary dyskinesia 19 with or without situs inversus
Term information
- OMIM:614935 (MONDO:equivalentTo)
- DOID:0110608 (MONDO:equivalentTo)
- UMLS:C3543826 (OMIM:614935)
- GARD:15883 (OMIM:614935)
gard_rare, rare, nord_rare, clingen
http://purl.obolibrary.org/obo/DOID_0110608
https://omim.org/entry/614935
http://linkedlifedata.com/resource/umls/id/C3543826
ciliary dyskinesia, primary, 19, with or without situs inversus
ciliary dyskinesia, primary, 19