OBO ID: DOID:0110982
Term Name: Joubert syndrome 13 Search Ontology:
Synonyms:
  • JBTS13
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/21725307
References:
Ontology: Human Disease   ( DOID:0110982 )
Relationships
is a type of:
OTHER Joubert syndrome 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TCTN1 Joubert syndrome 13 614173
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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