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ZIRC
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)
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