Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:abbreviation |
gptkb:BBS
|
| gptkbp:affects |
ciliopathy
|
| gptkbp:causedBy |
genetic disorder
autosomal recessive inheritance |
| gptkbp:containsGene |
gptkb:CEP290
TRIM32 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS18 BBS2 BBS4 BBS5 BBS6 BBS7 BBS8 BBS9 C8orf37 IFT27 IFT74 LZTFL1 MKS1 SDCCAG8 WDPCP |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
Arthur Biedl
Georges Bardet |
| https://www.w3.org/2000/01/rdf-schema#label |
Bardet-Biedl syndrome
|
| gptkbp:ICD-10_code |
Q87.89
|
| gptkbp:namedAfter |
Arthur Biedl
Georges Bardet |
| gptkbp:OMIM |
209900
|
| gptkbp:prevalence |
1 in 100,000 to 1 in 160,000 worldwide
higher in certain populations (e.g., Kuwait, Newfoundland) |
| gptkbp:symptom |
obesity
intellectual disability polydactyly developmental delay hypogonadism retinal dystrophy renal abnormalities |
| gptkbp:treatment |
weight management
hormone therapy symptomatic management renal monitoring vision aids |
| gptkbp:bfsParent |
gptkb:CEP290
gptkb:CEP290_gene |
| gptkbp:bfsLayer |
7
|