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Joubert syndrome 17

^ http://purl.obolibrary.org/obo/MONDO_0013824

Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:614615 (MONDO:equivalentTo)
  • NCIT:C175702 (MONDO:equivalentTo)
  • UMLS:C3553264 (OMIM:614615)
  • DOID:0110986 (MONDO:equivalentTo)
abbreviation
JBTS17 [ MONDO:Lexical DOID:0110986 OMIM:614615 ]

definition

Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C175702, https://omim.org/entry/614615, http://linkedlifedata.com/resource/umls/id/C3553264, http://purl.obolibrary.org/obo/DOID_0110986

has exact synonym

CPLANE1 Joubert syndrome, Joubert syndrome caused by mutation in CPLANE1, Joubert syndrome type 17, Joubert syndrome 17, JBTS17

id

MONDO:0013824

Term relations

Subclass of: