OBO ID: DOID:0110991
Term Name: Joubert syndrome 22 Search Ontology:
Synonyms:
  • JBTS22
Definition: A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/24166846
References:
Ontology: Human Disease   ( DOID:0110991 )
Relationships
is a type of:
OTHER Joubert syndrome 22 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PDE6D Joubert syndrome 22 615665
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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