Search Ontology:
Human Disease

Bardet-Biedl syndrome 21

Term ID
DOID:0081010
Synonyms
Definition
A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/27008867/
References
Ontology
Human Disease   ( DOID:0081010 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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