Visualize Submit Comment
Metadata
ID DOID:0110135
Name Bardet-Biedl syndrome 13
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
Xrefs

ICD10CM:Q87.89

MESH:C567140

MIM:615990

Synonyms

BBS13 [EXACT]

Parent Relationships

is_a Bardet-Biedl syndrome

Add an item to the term tracker