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Human Disease

Joubert syndrome 6

Term ID
DOID:0111001
Synonyms
  • JBTS6
Definition
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/17160906
References
Ontology
Human Disease   ( DOID:0111001 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models