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| Term | Bardet-Biedl syndrome 12 | ID (Ontology) | DOID:0110134 (Human Disease) |
| Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. | ||
| Also Known As | "BBS12" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease__ syndrome_____________________| Bardet-Biedl syndrome |__Bardet-Biedl syndrome 12 |
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| Is a | Bardet-Biedl syndrome | ||
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External Crossreferences & Linkouts
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GARD:10211 ICD10CM:Q87.89 MESH:C565921 MIM:615989 |
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