OBO ID: DOID:0081011
Term Name: Bardet-Biedl syndrome 22 Search Ontology:
Synonyms:
Definition: A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. https://pubmed.ncbi.nlm.nih.gov/27486776/
References:
Ontology: Human Disease   ( DOID:0081011 )
OTHER Bardet-Biedl syndrome 22 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFT74 Bardet-Biedl syndrome 22 617119
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None