Terminology Service for NFDI4Health
Joubert syndrome 17
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http://purl.obolibrary.org/obo/MONDO_0013824
Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene. [ ]
Term info
Label
Joubert syndrome 17
Synonyms
- CPLANE1 Joubert syndrome
- JBTS17
- Joubert syndrome 17
- Joubert syndrome caused by mutation in CPLANE1
- Joubert syndrome type 17
exactMatch
https://omim.org/entry/614615, http://linkedlifedata.com/resource/umls/id/C3553264, http://purl.obolibrary.org/obo/DOID_0110986
id
MONDO:0013824