OBO ID: DOID:0111001
Term Name: Joubert syndrome 6 Search Ontology:
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 Joubert syndrome 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM67 Joubert syndrome 6 610688
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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