Visualize Submit Comment

Metadata
ID	DOID:0081011
Name	Bardet-Biedl syndrome 22
Definition	A 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. https://pubmed.ncbi.nlm.nih.gov/27486776/
Xrefs	MIM:617119
Parent Relationships	is_a Bardet-Biedl syndrome
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance