Joubert Syndrome 9

Preferred Label : Joubert Syndrome 9;

NCIt synonyms : JBTS9;

NCIt definition : An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CC2D2A gene, encoding coiled-coil and C2 domain-containing protein 2A.;

Details

Origin ID

C181002;

UMLS CUI

C2676788;

Automatic exact mappings (from CISMeF team)
- coiled-coil and C2 domain containing 2A [ORDO Gene]
Currated CISMeF NLP mapping
- Joubert syndrome 9 [OMIM Phenotype]
- Joubert syndrome 9 [DO Concept]
- joubert syndrome 9 [MeSH concept]
- joubert syndrome 9 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 9 [OMIM Phenotype]
- joubert syndrome 9 [MeSH Supplementary Concept]
- joubert syndrome 9 [MeSH 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
- CC2D2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients