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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Bardet-Biedl syndrome 12
Summary
- Synonym
-
- BBS12
- Definition
- A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.
- Super Class
- Bardet-Biedl syndrome
External Links
- Disease Ontology
- DOID:0110134
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TBF5 | Phosphatidylinositol-glycan biosynthesis class X protein | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV |
