OBO ID: DOID:0080277
Term Name: Joubert syndrome 31 Search Ontology:
Synonyms:
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. https://pubmed.ncbi.nlm.nih.gov/27208211/
References:
Ontology: Human Disease   ( DOID:0080277 )
Relationships
is a type of:
OTHER Joubert syndrome 31 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP120 Joubert syndrome 31 617761
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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