Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: bli-1 (Cel)
Disease
Source: DOID:2256
Definition: A bone development disease that results_in defective development of cartilage or bone.
Genes: bli-1 (Cel)
Source: DOID:0070301
Definition: A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.
Genes: bli-1 (Cel)
Disease
Source: DOID:0080046
Definition: A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.
Genes: bli-1 (Cel)
Disease
Source: DOID:10983
Definition: A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss.
Genes: bli-1 (Cel)