Bardet-Biedl syndrome 2

Term ID

DOID:0110124

Synonyms

• BBS2

Definition

A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. https://www.ncbi.nlm.nih.gov/pubmed/16823392

References

• GARD:821
• ICD10CM:Q87.89
• MESH:C537910
• OMIM:615981

Ontology

Human Disease   ( DOID:0110124 )