Bardet-Biedl syndrome 7

Term ID

DOID:0110129

Synonyms

• BBS7

Definition

A Bardet-Biedl syndrome characterized by retinitis pigmentosa, postaxial polydactyly, impaired intellectual development, obesity, renal anomalies, and hypogenitalism that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. (2)

References

• GARD:10206
• ICD10CM:Q87.89
• MESH:C565916
• MIM:615984

Ontology

Human Disease   ( DOID:0110129 )