OBO ID: DOID:0081009
Term Name: Bardet-Biedl syndrome 20 Search Ontology:
Synonyms:
Definition: A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. https://pubmed.ncbi.nlm.nih.gov/24290075/
References:
Ontology: Human Disease   ( DOID:0081009 )
Relationships
is a type of:
OTHER Bardet-Biedl syndrome 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IFT172 Bardet-Biedl syndrome 20 619471
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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