Search Ontology:
Human Disease

Joubert syndrome 21

Term ID
DOID:0110990
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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