Metadata | |
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ID | DOID:0081010 |
Name | Bardet-Biedl syndrome 21 |
Definition | A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/27008867/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |