Bardet-Biedl syndrome 9

Term ID

DOID:0110131

Synonyms

• BBS9

Definition

A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. https://www.ncbi.nlm.nih.gov/pubmed/16380913

References

• GARD:10208
• ICD10CM:Q87.89
• MESH:C565918
• OMIM:615986

Ontology

Human Disease   ( DOID:0110131 )