Bardet-Biedl syndrome 13

Term ID

DOID:0110135

Synonyms

• BBS13

Definition

A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. https://www.ncbi.nlm.nih.gov/pubmed/18327255

References

• ICD10CM:Q87.89
• MESH:C567140
• OMIM:615990

Ontology

Human Disease   ( DOID:0110135 )