OBO ID: DOID:0110985
Term Name: Joubert syndrome 16 Search Ontology:
Synonyms:
  • JBTS16
Definition: A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. https://www.ncbi.nlm.nih.gov/pubmed/22282472
References:
Ontology: Human Disease   ( DOID:0110985 )
Relationships
is a type of:
OTHER Joubert syndrome 16 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM138 Joubert syndrome 16 614465
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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