The new version of OLS (OLS4) will be unavailable for the next few days while we resolve deployment issues.

You can continue to browse this version of OLS, but some ontologies may be out of date.

JSON

primary ciliary dyskinesia 14

Go to external page http://purl.obolibrary.org/obo/MONDO_0013434

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene. [ MONDO : patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
abbreviation
CILD14 [ DOID : 0110598 MONDO : Lexical https://omim.org/entry/613807 ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.
exactMatch
  • https://omim.org/entry/613807
  • http://linkedlifedata.com/resource/umls/id/C3151136
  • http://purl.obolibrary.org/obo/DOID_0110598
has exact synonym
  • primary ciliary dyskinesia type 14
  • ciliary dyskinesia, primary, type 14
  • primary ciliary dyskinesia 14
  • CCDC39 primary ciliary dyskinesia
  • CILD14
  • primary ciliary dyskinesia caused by mutation in CCDC39
  • primary ciliary dyskinesia 14 with or without situs inversus
has related synonym
  • ciliary dyskinesia, primary, 14
  • ciliary dyskinesia, primary, 14, with or without situs inversus
id
  • MONDO:0013434