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Human Disease

Bardet-Biedl syndrome 22

Term ID
DOID:0081011
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 )
Relationships
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Genes Involved
Zebrafish Models