Search Ontology:
Human Disease
Bardet-Biedl syndrome 18
- Term ID
- DOID:0110140
- Synonyms
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- BBS18
- Definition
- A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. https://www.ncbi.nlm.nih.gov/pubmed/24026985
- References
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- ICD10CM:Q87.89
- MIM:615995
- Ontology
- Human Disease ( DOID:0110140 )
- is a type of
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Genes Involved
Zebrafish Models