This website is for informational and educational purposes only. Please do not self-medicate; contact a medical professional for advice before administration. This website is for informational and educational purposes only. Please do not self-medicate; contact a medical professional for advice before administration.

Bardet-Biedl Syndrome 22

Disease ID: disease_node_20219

Connections displayed (default: 10).
Loading graph...

DbxrefMIM:617119
SubclassofDOID_1935
Data SourceDOID
Doid LabelBardet-Biedl syndrome 22
Doid DescriptionA Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20219
Doid IdDOID_0081011
LabelBardet-Biedl Syndrome 22