OBO ID: DOID:0110988
Term Name: Joubert syndrome 2 Search Ontology:
Synonyms:
  • cerebellooculorenal syndrome 2
  • CORS2
  • JBTS2
Definition: A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (2)
References:
Ontology: Human Disease   ( DOID:0110988 )
Relationships
is a type of:
OTHER Joubert syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM216 Joubert syndrome 2 608091
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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