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Bardet-Biedl Syndrome 18

Disease ID: disease_node_20214

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DbxrefICD10CM:Q87.89, MIM:615995
SubclassofDOID_1935
Data SourceDOID
SynonymsBBS18
Doid LabelBardet-Biedl syndrome 18
Doid DescriptionA Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25.
Disease Node Iddisease_node_20214
Doid IdDOID_0110140
LabelBardet-Biedl Syndrome 18