Search Ontology:
Human Disease

Bardet-Biedl syndrome 14

Term ID
DOID:0110136
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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