Bardet-Biedl syndrome 18

Term ID

DOID:0110140

Synonyms

• BBS18

Definition

A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. https://www.ncbi.nlm.nih.gov/pubmed/24026985

References

• ICD10CM:Q87.89
• OMIM:615995

Ontology

Human Disease   ( DOID:0110140 )