Bardet-Biedl Syndrome 20
Disease ID: disease_node_20221
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| Dbxref | MIM:619471 |
|---|---|
| Subclassof | DOID_1935 |
| Data Source | DOID |
| Doid Label | Bardet-Biedl syndrome 20 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20221 |
| Doid Id | DOID_0081009 |
| Label | Bardet-Biedl Syndrome 20 |
- Outgoing r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome(ID:disease_node_10716) (Disease)