Bardet-Biedl syndrome 1

Term ID

DOID:0110123

Synonyms

• BBS1

Definition

A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/20177705

References

• GARD:820
• ICD10CM:Q87.89
• MESH:C537909
• MIM:209900

Ontology

Human Disease   ( DOID:0110123 )