OBO ID: DOID:0110990
Term Name: Joubert syndrome 21 Search Ontology:
Synonyms:
  • JBTS21
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. https://www.ncbi.nlm.nih.gov/pubmed/24360808
References:
Ontology: Human Disease   ( DOID:0110990 )
Relationships
is a type of:
OTHER Joubert syndrome 21 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CSPP1 Joubert syndrome 21 615636
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.