joubert syndrome 7

Preferred Label : joubert syndrome 7;

MeSH note : mutation in RPGRIP1L;

Origin ID

C566916;

UMLS CUI

C1969053;

Currated CISMeF NLP mapping
- Joubert Syndrome 7 [NCIt concept]
- Joubert syndrome 7 [DO Concept]
- Joubert syndrome 7 [OMIM Phenotype]
DO Cross reference
- Joubert syndrome 7 [DO Concept]
MeSH term(s) associated for indexing
- ataxia [MeSH Descriptor]
- cerebellar diseases [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- kidney diseases, cystic [MeSH Descriptor]
- ocular motility disorders [MeSH Descriptor]
Record concept(s)
- joubert syndrome 7 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert Syndrome 7 [NCIt concept]
- Joubert syndrome 7 [OMIM Phenotype]
- Joubert syndrome 7 [DO Concept]