OBO ID: DOID:0110136
Term Name: Bardet-Biedl syndrome 14 Search Ontology:
Synonyms:
  • BBS14
Definition: A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. https://www.ncbi.nlm.nih.gov/pubmed/18327255
References:
Ontology: Human Disease   ( DOID:0110136 )
Relationships
is a type of:
OTHER Bardet-Biedl syndrome 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP290 ?Bardet-Biedl syndrome 14 615991
TMEM67 {Bardet-Biedl syndrome 14, modifier of} 615991
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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