Joubert Syndrome 3

Preferred Label : Joubert Syndrome 3;

NCIt synonyms : JBTS3;

NCIt definition : An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the AHI1 gene, encoding Jouberin.;

NCI Metathesaurus CUI : CL550926;

Details

Origin ID

C148259;

UMLS CUI

C1837713;

Currated CISMeF NLP mapping
- Joubert syndrome 3 [DO Concept]
- Joubert syndrome 3 [OMIM Phenotype]
- Joubert syndrome 3 [MeSH concept]
- joubert syndrome 3 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Abelson helper integration site 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 3 [DO Concept]
- Joubert syndrome 3 [OMIM Phenotype]
- Joubert syndrome 3 [MeSH concept]
- joubert syndrome 3 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- AHI1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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