Search Ontology:
Human Disease
Bardet-Biedl syndrome 9
- Term ID
- DOID:0110131
- Synonyms
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- BBS9
- Definition
- A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. https://www.ncbi.nlm.nih.gov/pubmed/16380913
- References
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- GARD:10208
- ICD10CM:Q87.89
- MESH:C565918
- MIM:615986
- Ontology
- Human Disease ( DOID:0110131 )
- is a type of
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Genes Involved
Zebrafish Models