joubert syndrome 10

Preferred Label : joubert syndrome 10;

MeSH note : mutation in OFD1;

MeSH synonym : JBTS10;

Origin ID

C567582;

UMLS CUI

C2749019;

Currated CISMeF NLP mapping
- Joubert syndrome 10 [DO Concept]
- Joubert syndrome 10 [OMIM Phenotype]
DO Cross reference
- Joubert syndrome 10 [DO Concept]
MeSH term(s) associated for indexing
- cerebellar diseases [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
Record concept(s)
- joubert syndrome 10 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Joubert syndrome 10 [OMIM Phenotype]
- Joubert syndrome 10 [DO Concept]