Bardet-Biedl Syndrome 21
Disease ID: disease_node_20220
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| Dbxref | MIM:617406 |
|---|---|
| Subclassof | DOID_1935 |
| Data Source | DOID |
| Doid Label | Bardet-Biedl syndrome 21 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20220 |
| Doid Id | DOID_0081010 |
| Label | Bardet-Biedl Syndrome 21 |
- Outgoing r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome(ID:disease_node_10716) (Disease)