WormBase Tree Display for DO_term: DOID:0081009
expand all nodes | collapse all nodes | view schema
| DOID:0081009 | Name | Bardet-Biedl syndrome 20 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. | ||||
| Parent | Is_a | DOID:1935 | |||
| DB_info | Database | OMIM | disease | 619471 | |
| Attribute_of | Gene_by_orthology | WBGene00003883 |
