Joubert Syndrome 17

Preferred Label : Joubert Syndrome 17;

NCIt synonyms : JBTS17;

NCIt definition : An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CPLANE1 gene, encoding ciliogenesis and planar polarity effector 1.;

Details

Origin ID

C175702;

UMLS CUI

C3553264;

Automatic exact mappings (from CISMeF team)
- ciliogenesis and planar polarity effector complex subunit 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Joubert syndrome 17 [OMIM Phenotype]
- Joubert syndrome 17 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 17 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CPLANE1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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