Bardet-Biedl syndrome 19

Term ID

DOID:0110141

Synonyms

• BBS19

Definition

A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/24488770

References

• ICD10CM:Q87.89
• MIM:615996

Ontology

Human Disease   ( DOID:0110141 )