Search Ontology:
Human Disease
Bardet-Biedl syndrome 12
- Term ID
- DOID:0110134
- Synonyms
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- BBS12
- Definition
- A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. (2)
- References
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- GARD:10211
- ICD10CM:Q87.89
- MESH:C565921
- OMIM:615989
- Ontology
- Human Disease ( DOID:0110134 )
- is a type of
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