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

This is just here as a test because I lose it

Term information

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

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, mondo_subtype, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_included, nord_rare, matrix_llm__tag_existing_treatment_other, clingen, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, mondo_top_grouping_syndromic_disease

ClinGen label
Joubert syndrome 17 [ https://omim.org/entry/614615 MONDO:Lexical NCIT:C175702 DOID:0110986 ]

abbreviation
JBTS17 [ NCIT:C175702 DOID:0110986 https://omim.org/entry/614615 MONDO:Lexical ]

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0013824

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