WormBase Tree Display for DO_term: DOID:0110986

DOID:0110986 Name: Joubert syndrome 17
  Status: Valid
  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.
  Synonym: Exact: JBTS17
  Parent: Is_a: DOID:0050777
  DB_info: Database: OMIM disease 614615