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Joubert syndrome 17

Go to external page 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 ]

Synonyms: CPLANE1 Joubert syndrome Joubert syndrome type 17 Joubert syndrome caused by mutation in CPLANE1 Joubert syndrome 17 JBTS17

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:15824 (MONDO:GARD)
  • DOID:0110986 (MONDO:equivalentTo)
  • MEDGEN:766178 (MONDO:equivalentTo)
  • NCIT:C175702 (MONDO:equivalentTo)
  • OMIM:614615 (MONDO:equivalentTo)
  • UMLS:C3553264 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, nord_rare, clingen

ClinGen label
Joubert syndrome 17 [ MONDO:Lexical https://omim.org/entry/614615 ]

abbreviation
JBTS17 [ https://omim.org/entry/614615 DOID:0110986 MONDO:Lexical ]

exactMatch

http://purl.obolibrary.org/obo/NCIT_C175702

http://identifiers.org/medgen/766178

https://omim.org/entry/614615

http://linkedlifedata.com/resource/umls/id/C3553264

http://purl.obolibrary.org/obo/DOID_0110986

id

MONDO:0013824