OBO ID: DOID:0080275
Term Name: Joubert syndrome 30 Search Ontology:
Synonyms:
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. https://pubmed.ncbi.nlm.nih.gov/28625504/
References:
Ontology: Human Disease   ( DOID:0080275 )
OTHER Joubert syndrome 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARMC9 Joubert syndrome 30 617622
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None