OBO ID: DOID:0110986
Term Name: Joubert syndrome 17 Search Ontology:
Synonyms:
  • JBTS17
Definition: A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. https://www.ncbi.nlm.nih.gov/pubmed/26092869
References:
Ontology: Human Disease   ( DOID:0110986 )
Relationships
is a type of:
OTHER Joubert syndrome 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CPLANE1 Joubert syndrome 17 614615
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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