OBO ID: DOID:0081010
Term Name: Bardet-Biedl syndrome 21 Search Ontology:
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
is a type of:
OTHER Bardet-Biedl syndrome 21 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
C8orf37 Bardet-Biedl syndrome 21 617406
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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